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Mostrando 421 - 440 Resultados de 501 Para Buscar '"Odyssey"', tiempo de consulta: 0.51s Limitar resultados
  1. 421
    “…PURPOSE: For neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a streamlined algorithm maximizing molecular diagnostic yield for this clinical indication. …”
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    Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
  2. 422
    “…BACKGROUND: Alirocumab is a fully human monoclonal antibody to proprotein convertase subtilisin/kexin type 9 (PCSK9) and has been previously shown, in the phase III ODYSSEY clinical trial program, to provide significant lowering of low-density lipoprotein cholesterol (LDL-C) and reduction in risk of major adverse cardiovascular events. …”
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    A Retrospective Observational Study to Determine Baseline Characteristics and Early Prescribing Patterns for Patients Receiving Alirocumab in UK Clinical Practice
  3. 423
    “…CONCLUSIONS: HADA can achieve the rapid detection of variants affecting function for different hereditary angioedema types, and further integrates useful information to reduce the diagnosis odyssey and improve its delay.…”
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    Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation
  4. 424
    “…Efficacy and safety were consistent with findings observed in the ODYSSEY Phase III programme.…”
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    Intensified lipid-lowering treatment with alirocumab in patients with coronary heart disease
  5. 425
    “…Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic odyssey or remain undiagnosed. Defining the molecular etiology can bring insights into the responsible molecular pathways and eventually the identification of therapeutic targets. …”
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    Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
  6. 426
    “…In a post hoc analysis, we evaluated outcomes in ODYSSEY OUTCOMES in patients with vs. without a history of HF randomized to the proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor alirocumab or placebo. …”
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    Alirocumab after acute coronary syndrome in patients with a history of heart failure
  7. 427
    “…Applying the NGS to shorten the diagnostic odyssey or to guide therapeutic options for rare diseases will fully work for Africans only when public repositories include sufficient data from African subjects.…”
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    Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group
  8. 428
    “…Overall, rapid ES was utilized in the NICU after the pilot research study, often as the first-tier sequencing test, and could identify the majority of disease-causing variants, shorten the diagnostic odyssey, and impact clinical care. Based on our experience, we have identified strategies to optimize the clinical implementation of rapid ES in the NICU.…”
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    Integrating rapid exome sequencing into NICU clinical care after a pilot research study
  9. 429
    “…Increased use of chromosome microarray assays, exome sequencing, and whole genome sequencing as first-tier testing techniques in suitable indications can shorten the diagnostic odyssey, eliminate unnecessary tests, procedures, and treatments, and lower healthcare expenditures. …”
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    Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
  10. 430
    “…Severe pulmonary hypertension resolved after appropriate ventilation adjustment. Diagnostic odyssey was quite dramatic. CONCLUSION: Detection of a novel PHOX2B variant expands the understanding of molecular mechanisms of CCHS and genotype–phenotype correlations.…”
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    Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
  11. 431
    “…METHODS: Transition probabilities and hazard ratios were derived from cardiovascular outcome trials for statin combinations with icosapent ethyl (REDUCE-IT), evolocumab (FOURIER), alirocumab (ODYSSEY), ezetimibe (IMPROVE-IT), and fibrate (ACCORD). …”
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    Cost-Effectiveness of Lipid-Lowering Therapies for Cardiovascular Prevention in Germany
  12. 432
    “…In vivo imaging was performed with the NIR dye and the LI-COR Odyssey Image System. The level of emission was compared among mice with different disease severity, non-arthritic mice and arthritic mice injected with a control dye without the Zn-DPA targeting moiety. …”
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    Non-invasive in vivo imaging of arthritis in a collagen-induced murine model with phosphatidylserine-binding near-infrared (NIR) dye
  13. 433
    “…The cost-effectiveness of WES was demonstrated by ending the diagnostic odyssey in positive cases. Also, in some cases it may be most cost-effective to directly perform WES. …”
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    Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience
  14. 434
    “…Efficacy and safety were consistent with findings observed in the ODYSSEY Phase III program. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s40801-019-0158-0) contains supplementary material, which is available to authorized users.…”
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    PEARL: A Non-interventional Study of Real-World Alirocumab Use in German Clinical Practice
  15. 435
    “…Moreover, participation was high due to a pronounced engagement of those affected, diminishing as patients’ strength vanish during their odyssey through health care systems. The particular roles of “expert patients” or “lay experts” in the rare disease field were revealed, with further potential in integrating the gathered information. …”
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    Integrating patient perspectives in medical decision-making: a qualitative interview study examining potentials within the rare disease information exchange process in practice
  16. 436
    “…RESEARCH DESIGN AND METHODS: In the ODYSSEY OUTCOMES trial alirocumab was compared with placebo in patients with acute coronary syndrome. …”
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    Relation of Lipoprotein(a) Levels to Incident Type 2 Diabetes and Modification by Alirocumab Treatment
  17. 437
    “…The study also aims to identify the most appropriate strategy according to the clinical presentation of the patients, to evaluate the impact of deployment of GS on the families’ diagnostic odyssey and the modification of their care, and to identify the advantages/difficulties for the patients and their families. …”
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    Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study
  18. 438
    “…More recently, complex phenotypes caused by more than one genetic defect (i.e., dual molecular diagnosis) have also been reported in skeletal deformities and may complicate the diagnostic odyssey of patients. In this study, we report the molecular and phenotypic characteristics of patients with dual molecular diagnosis and variable skeletal deformities. …”
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    Delineation of dual molecular diagnosis in patients with skeletal deformity
  19. 439
    “…Molecular diagnosis is useful for patients with unexplained intractable diarrhea, which puts an end to a long diagnostic odyssey.…”
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    Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review
  20. 440
    “…Sixty DNA variants were described, ranging from single nucleotide variants to large chromosomal deletions. The diagnostic odyssey was probably substantially decreased after medical education activities promoted by the pharmaceutical industry and parent organizations in some SA&C countries. …”
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    Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
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