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| http://dx.doi.org/10.1016/s0828-282x(09)70052-2 | DOI Listing |
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Triple mosaic variants of PURA in a patient with multiple congenital anomalies.
J Hum Genet
January 2025
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
In monogenic diseases, double mosaic variants of the same gene have rarely been identified. Here, we report the case of triple mosaic variants in PURA, a gene responsible for a neurodevelopmental syndrome (OMIM# 616158). Whole-exome sequencing identified three somatic PURA variants in our case with a similar neurodevelopmental syndrome: NM_005859.
View Article and Find Full Text PDFCost-utility analysis of combination medical therapies in chronic coronary syndrome: a comparative study using real-world and patient-level data from Iran.
BMJ Open
January 2025
Pharmaceutical Sciences Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran (the Islamic Republic of).
Objectives: The main objective was to evaluate the cost-effectiveness of various medical therapy combinations in managing chronic coronary syndrome (CCS) in Iran, based on real-world and patient-level data.
Design: A cost-utility analysis employing a Markov model was conducted using data from a retrospective cohort study.
Setting: The study was conducted in the healthcare setting of Iran, focusing on primary and secondary care.
Dexmedetomidine versus hyaluronidase along with lumbar transforaminal epidural steroid injection in failed back surgery: a randomized double-blind clinical trial.
Anesth Pain Med (Seoul)
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Department of Anesthesia and Pain Medicine, Alfayoum University, Alfayoum, Egypt.
Background: Failed back surgery syndrome is a common problem faced by chronic pain management specialists. Steroid-only epidural injections have modest efficacy because of excessive scarring. Epidural hyaluronidase (HA), functions as a depolymerizing agent, successfully breaking down adhesions and collagen bundles, whereas dexmedetomidine (DEX) helps to reduce inflammation.
View Article and Find Full Text PDFAI-derived automated quantification of cardiac chambers and myocardium from non-contrast CT: Prediction of major adverse cardiovascular events in asymptomatic subjects.
Atherosclerosis
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Biomedical Imaging Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Electronic address:
Background And Aims: The significance of left ventricular mass and chamber volumes from non-contrast computed tomography (CT) for predicting major adverse cardiovascular events (MACE) has not been studied. Our objective was to evaluate the role of artificial intelligence-enabled multi-chamber cardiac volumetry from non-contrast CT for long-term risk stratification in asymptomatic subjects without known coronary artery disease.
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Effects of renal denervation on the course of cardiorenal syndrome: insight from studies with fawn-hooded hypertensive rats.
Physiol Res
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Department of Pathophysiology, The Second Faculty of Medicine, Charles University, Prague, Czech Republic, Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Combination of chronic kidney disease (CKD) and heart failure (HF) results in extremely high morbidity and mortality. The current guideline-directed medical therapy is rarely effective and new therapeutic approaches are urgently needed. The study was designed to examine if renal denervation (RDN) will exhibit long-standing beneficial effects on the HF- and CKD-related morbidity and mortality.
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