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| http://dx.doi.org/10.1038/leu.2017.271 | DOI Listing |
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Genetic Ancestry-Based Differences in Biomarker-Based Eligibility for Precision Oncology Therapies.
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Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York.
Importance: Although differences in the prevalence of key cancer-specific somatic mutations as a function of genetic ancestry among patients with cancer has been well-established, few studies have addressed the practical clinical implications of these differences for the growing number of biomarker-driven treatments.
Objective: To determine if the approval of precision oncology therapies has benefited patients with cancer from various ancestral backgrounds equally over time.
Design, Setting, And Participants: A retrospective analysis of samples from patients with solid cancers who underwent clinical sequencing using the integrated mutation profiling of actionable cancer targets (MSK-IMPACT) assay between January 2014 and December 2022 was carried out.
Physiologic and structural characterization of desisobutyryl-ciclesonide, a selective glucocorticoid receptor modulator in newborn rats.
PNAS Nexus
January 2025
Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, 3501 Fifth Avenue, Pittsburgh, PA 15261, USA.
Bronchopulmonary dysplasia, the most prevalent chronic lung disease of prematurity, is often treated with glucocorticoids (GCs) such as dexamethasone (DEX), but their use is encumbered with several adverse somatic, metabolic, and neurologic effects. We previously reported that systemic delivery of the GC prodrug ciclesonide (CIC) in neonatal rats activated glucocorticoid receptor (GR) transcriptional responses in lung but did not trigger multiple adverse effects caused by DEX. To determine whether limited systemic metabolism of CIC was solely responsible for its enhanced safety profile, we treated neonatal rats with its active metabolite desisobutyryl-ciclesonide (Des-CIC).
View Article and Find Full Text PDFFive-year trajectories of symptom severity, physical and mental functioning in patients with persistent somatic symptoms: the PROSPECTS cohort study.
BMJ Open
January 2025
Amsterdam Public Health research institute, Amsterdam, The Netherlands.
Objectives: Knowledge about the long-term course and prognosis of persistent somatic symptoms (PSS) is important to improve clinical decision-making and guidance for patients with PSS. Therefore, we aimed to: (1) identify distinct 5-year trajectories of symptom severity, physical and mental functioning in adult patients with PSS and (2) explore patient characteristics associated with these trajectories.
Design: We used longitudinal data (seven measurements over a 5-year period) of the PROSPECTS study: a prospective cohort of adult patients with PSS.
What are the important risk factors for excessive daytime sleepiness in a population-based cohort?
J Sleep Res
January 2025
Centre for Sleep and Vigilance Disorders, Department of Internal Medicine and Clinical Nutrition, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Excessive daytime sleepiness (EDS) is a common complaint in the general population and is associated with cardiovascular disease and increased mortality. We aimed to investigate whether sleep duration is related to excessive daytime sleepiness in the general population, both in itself and in combination with other factors. We performed a cross-sectional analysis in the population-based Swedish CArdioPulmonary bioImage Study (SCAPIS) cohort (n = 27,976; 14,436 females; aged 50-64 years) to assess how sleep-related factors along with anthropometric, lifestyle, socioeconomic factors as well as somatic disease and psychological distress, were related with EDS assessed by the Epworth sleepiness scale (ESS).
View Article and Find Full Text PDFPositive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.
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Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Liver transplantation (LTx) is increasingly used in Urea Cycle Defects (UCDs) to prevent recurrent hyperammonemia and related neurological irreversible injury. Among UCDs, argininosuccinate lyase deficiency (ASLD) has a more complex phenotype than other UCDs, with long-term neurocognitive deficits. Therefore, the role of LTx in ASLD is still debated.
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