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Identification and characterization of a novel tick-borne flavivirus subtype in goats (Capra hircus) in Spain.
Empirical data demonstrates that the LIV-like virus detected is significantly divergent from LIV and Spanish sheep encephalitis virus (SSEV), and this virus encoded an amino acid sequence motif at the site of a previously identified marker for differentiating tick-borne flaviviruses.
Maturity Assessment model for Patient Blood Management to assist hospitals in improving patients' safety and outcomes. The MAPBM project.
- E. Bisbe, A. Garcia-Casanovas, P. Llamas
- Medicine, Political ScienceBlood transfusion = Trasfusione del sangue
- 18 September 2020
The MAPBM initiative aims to become a useful tool for healthcare organisations to implement PBM programmes and improve patients' safety and outcomes and proves the feasibility of implementing a sustainable model to measure and compare PBM clinical practice and outcomes across hospitals in Spain.
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy
The utility of genetic testing for adults with epilepsy, particularly for those with childhood-onset seizures, ID, and pharmacoresistance, is reinforced, due to longer survival and the complexity of the transition from pediatric to adult care.
eP119: The landscape of peripheral neuropathy genetics: When common causes are not actually the cause
Genetic testing guides clinical management of epilepsy and improves patient outcomes
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.
- Britt Johnson, Karen J. Ouyang, K. Nykamp
- Biology, PsychologyAmerican journal of medical genetics. Part A
- 16 May 2022
P predictive phenotype evidence associated with specific curated genes can be systematically incorporated into variant interpretation to reduce uncertainty and increase the clinical utility of genetic testing.
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of CLN2 Batten disease.
Findings indicate that facilitated access to early epilepsy gene panel testing helps to increase diagnostic yield for CLN2 disease and shortens the time to diagnosis, enabling earlier intervention.
The KIDNEYCODE program: Diagnostic yield and clinical features of individuals with chronic kidney disease
Though skewed to identify individuals with Alport syndrome, findings support the need to improve access to genetic testing for patients with CKD-particularly in the context of family history of kidney disease, hematuria, and hearing loss.
Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: results from 10,853 tests
Genetic testing for adults with epilepsy reveals a significant diagnostic yield and precision medicine implications for many individuals with a molecular diagnosis