Results 31 to 40 of about 1,862 (162)

Characterization of Depressive and Anxiety Symptoms in Idiopathic REM Sleep Behavior Disorder

open access: yesJournal of Parkinson’s Disease, 2021
Background: Depression and anxiety are common in synucleinopathies and often present during prodromal stages, including idiopathic/isolated REM sleep behavior disorder (iRBD).
Lucy Honeycutt   +5 more
doaj   +1 more source

CYP450 Genotype—Phenotype Concordance Using the Geneva Micrococktail in a Clinical Setting

open access: yesFrontiers in Pharmacology, 2021
Pharmacokinetic variability is a major source of differences in drug response and can be due to genetic variants and/or drug-drug interactions. Cytochromes P450 are among the most studied enzymes from a pharmacokinetic point of view.
Kuntheavy Ing Lorenzini   +6 more
doaj   +1 more source

Case Report: Performing a Medication Safety Review Assisted by Pharmacogenomics to Explain a Prescribing Cascade Resulting in a Patient Fall

open access: yesMedicina, 2023
Pharmacotherapy for major depressive disorder (MDD) typically consists of trial-and-error and clinician preference approaches, where patients often fail one or more antidepressants before finding an optimal regimen.
Joshua Russell   +6 more
doaj   +1 more source

Dasatinib-induced nephrotic syndrome: a case of phenoconversion?

open access: yesCroatian Medical Journal, 2019
We present the case of a 33-year-old chronic myeloid leukemia (CML) female patient, in whom the occurrence of nephrotic syndrome, during the treatment with tyrosine kinase activity inhibitors (TKIs), was potentially influenced by transient phenoconversion.
Mandac Rogulj, Inga   +6 more
openaire   +6 more sources

Differential subcellular expression of P525L FUS as a putative biomarker for ALS phenoconversion [PDF]

open access: yesNeurology Genetics, 2020
P525LFused-in-Sarcoma ( FUS ) mutation is associated with a specific amyotrophic lateral sclerosis (ALS) phenotype characterized by a juvenile-onset and a severe course.1 This harmful point mutation is located in the nuclear localization signal (NLS) domain at the protein C-terminal.2 Although wild-type FUS protein is expressed almost exclusively in ...
Caputo, M, La Bella, V, Notaro, A
openaire   +3 more sources

Multimodal imaging in familial FTLD: phenoconversion and planning for the future [PDF]

open access: yesBrain, 2018
This scientific commentary refers to ‘Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia’, by Jiskoot et al. (doi:10.1093/brain/awy288).
Boeve, Bradley F, Rosen, Howard J
openaire   +4 more sources

‘Phenoconversion’ in adult patients with β‐thalassemia

open access: yesAmerican Journal of Hematology
Rate and risk factors for phenoconversion from non-transfusion-dependent β-thalassemia (NTDT) to transfusion-dependent β-thalassemia (TDT) during a 10-year follow up of adult patients in Italy.
Musallam, Khaled M.   +13 more
openaire   +4 more sources

Relationship of Mediterranean Diet and Caloric Intake to Phenoconversion in Huntington Disease [PDF]

open access: yesJAMA Neurology, 2013
Adherence to Mediterranean-type diet (MeDi) may delay onset of Alzheimer and Parkinson diseases. Whether adherence to MeDi affects time to phenoconversion in Huntington disease (HD), a highly penetrant, single-gene disorder, is unknown.To determine if MeDi modifies the time to clinical onset of HD (phenoconversion) in premanifest carriers participating
Marder, Karen   +6 more
openaire   +5 more sources

Factors Influencing Phenoconversion in CYP-Mediated Drug Metabolism: A Scoping Review

open access: yesPharmacy
Pharmacogenetics (PGx) aims to optimize drug therapy by predicting medication response based on genetic variation in drug-metabolizing enzymes. However, observed drug metabolism may differ from genotype-predicted metabolizer status given external or ...
Sierra Scodellaro   +2 more
doaj   +1 more source

Evaluation of a pantoprazole and 4‐desmethylpantoprazole‐sulfate metabolic ratio as a novel CYP2C19 phenotyping method

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aims CYP2C19 is one of the most important pharmacogenes, and its activity is highly variable due to factors such as genetics or drug–drug interactions. Due to the lack of an appropriate endogenous CYP2C19 biomarker, surrogate methods to assess its activity are warranted.
Julian Peter Müller   +9 more
wiley   +1 more source

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