“…This is the second published case report of a patient with pathogenic intronic variants in RYR1‐RM, with clinical RNA testing confirming variant pathogenicity and therefore the diagnosis suggesting that for some patients careful analysis of a patient's genome and transcriptome are required for a complete genetic evaluation. The diagnostic odyssey experienced by this patient highlights the importance of early, rapid WGS.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…To characterize the CXCR6/CXCL16 axis in the pathogenesis of severe COVID-19, plasma concentrations of CXCL16 collected at baseline from 115 hospitalized COVID-19 patients participating in ODYSSEY COVID-19 clinical trial were assessed together with a set of controls. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…However, the cinema does take up some important topics in the field of RDs and highlight their ethical, psychosocial, legal or economic dimension: the diagnostic and therapeutic odyssey, the role of RD patients’ advocacy groups in the production of scientific knowledge, the problem of orphan drugs, the stigmatisation of and discrimination against RD patients, and the impact of diagnosis on one’s concept of self and parents’ feelings of guilt. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Awareness of founder mutations within certain populations can further guide genetic testing and prevent a diagnostic odyssey, by placing this CD55 variant high on the differential diagnosis.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The identification of biallelic pathogenic variants in this family—one of which was a synonymous change not identified by prior clinical testing—not only ended the diagnostic odyssey for this family but also highlights the contribution of occult pathogenic variants that may not be recognized by standard genetic testing methodologies.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Expression of apoptosis-related genes were measured using a TaqMan® Human Apoptosis Array and the StepOne Plus RT-qPCR System, whilst apoptosis-related proteins were determined using a protein profiler™-human apoptosis array and the LI-COR Odyssey(R) Infrared Imaging System. Apigenin when combined with etoposide or cyclophosphamide-induced apoptosis via the mitochondrial pathway, increasing the expression of pro-apoptotic cytochrome c, SMAC/DIABLO, and HTRA2/OMI, which promoted caspase-9 and -3 activation. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In addition to being cost-effective, WGS could allow early genetic diagnosis shortening the diagnostic odyssey. The use of WGS in the diagnostic workup has the potential to revolutionise personalised medicine and to play a significant role in achieving SDG 3 by providing personalised healthcare, identifying genetic risk factors for diseases, and informing public health policies for a target population that represents the human capital of the future. …”
Enlace del recurso
Enlace del recurso

“…CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…To address the clinical and genetic “diagnostic odyssey,” we organized a Multidisciplinary Molecular Consultation (MMC) team for molecular consultation for 202 children with EP/NDD patients referred by lower level hospitals. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Live IFP1.4-labeled CPCs were imaged by their near-infrared fluorescence (NIRF) using an Odyssey scanner following overnight incubation with biliverdin. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…PURPOSE: Even with statins and other lipid-lowering therapy (LLT), many patients with heterozygous familial hypercholesterolemia (heFH) continue to have elevated low-density lipoprotein cholesterol (LDL-C) levels. ODYSSEY HIGH FH (NCT01617655) assessed the efficacy and safety of alirocumab, a proprotein convertase subtilisin/kexin type 9 monoclonal antibody, versus placebo in patients with heFH and LDL-C ≥ 160 mg/dl despite maximally tolerated statin ± other LLT. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…OBJECTIVES: The objective of this study is to report the dose response in ODYSSEY phase 3 clinical trials of proprotein convertase subtilisin kexin type 9 inhibition with alirocumab in patients not at prespecified lipid goals who received a per-protocol dose increase from 75 every 2 weeks (Q2W) to 150 mg Q2W. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…AIMS: This analysis assessed the efficacy and safety of alirocumab, a proprotein convertase subtilisin/kexin type 9 inhibitor, in patients with or without metabolic syndrome (MetS) using pooled data from 10 phase 3 ODYSSEY trials. MATERIALS AND METHODS: Data from 4983 randomized patients (1940 with MetS; 1642 with diabetes excluded) were assessed in subgroups by MetS status. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the “diagnostic odyssey”. Patients in resource-limited areas face even greater challenges—a definitive diagnosis may never be reached due to difficulties in gaining access to clinicians, appropriate specialists, and diagnostic testing. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The SPIRE 2 trial evaluating bococizumab in high-risk patients with baseline LDL-C ≥2.6 mmol/L (100 mg/dL) demonstrated significant atherosclerotic risk reduction, but the trial and further development of the drug was prematurely discontinued due to substantial attenuation of the LDL-C effect over time due to the development of neutralizing antibodies. Finally, the ODYSSEY Cardiovascular Outcomes trial testing alirocumab in subjects with recent (<1 year) acute coronary syndrome demonstrated a 15% relative risk reduction in the primary composite outcome, as well as a significant reduction in total mortality. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…PURPOSE: This post-hoc analysis examined whether age modified the efficacy and safety of alirocumab, a PCSK9 inhibitor, in patients with heterozygous familial hypercholesterolemia (HeFH), using pooled data from four 78-week placebo-controlled phase 3 trials (ODYSSEY FH I, FH II, LONG TERM, and HIGH FH). METHODS: Data from 1257 patients with HeFH on maximally tolerated statin ± other lipid-lowering therapies were analyzed by an alirocumab dose regimen and by age subgroups (18 to < 45, 45 to < 55, 55 to < 65, and ≥ 65 years). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Results: The patients reported that the diagnosis “acromegaly” was experienced as a nightmare but also a relief after a long medical odyssey. The management of numerous doctors’ visits, procuring and applying medication (“illness as a part-time job”), the irreversible bodily changes due to acromegaly (“buying shoes ruins my day”, “I cannot look at photographs of myself”, “buying work gloves is simply impossible”), treating physicians’ lack of knowledge about the disease, but also a lack of reliable information for patients and relatives, maintaining the cold chain for medication when travelling and fears of the results of medical investigations were named as chronic stressors of living with acromegaly. …”
Enlace del recurso
Enlace del recurso

“…We therefore sought to estimate possible impact of PCSK9i therapy from a community taxpayers’ perspective with a budget impact analysis based on data coming from two randomised trials (FOURIER (Further Cardiovascular Outcomes Research with PCSK9 Inhibition in Subjects with Elevated Risk), ODYSSEY OUTCOMES (Evaluation of Cardiovascular Outcomes After an Acute Coronary Syndrome During Treatment With Alirocumab)). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…CONTEXT: In the ODYSSEY CHOICE I trial, alirocumab 300 mg every 4 weeks (Q4W) was assessed in patients with hypercholesterolemia. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The identification of multiple relevant genetic findings in 2% of exome patients highlights the utility of a comprehensive molecular workup and updated interpretation of existing genomic data; a single definitive molecular diagnosis from analysis of a limited number of genes may not be the end of a diagnostic odyssey.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso