Results 51 to 60 of about 3,015 (189)

Distinct brain atrophy progression subtypes underlie phenoconversion in isolated REM sleep behaviour disorder [PDF]

EBioMedicine
BackgroundSynucleinopathies include a spectrum of disorders varying in features and severity, including idiopathic/isolated REM sleep behaviour disorder (iRBD), Parkinson's disease (PD), and dementia with Lewy bodies (DLB).
Joza S, Delva A, Tremblay C, Vo A, Filiatrault M, Tweedale M, Gagnon JF, Postuma RB, Dagher A, Klein J, Hu M, Dusek P, Marecek S, Varga Z, Taylor JP, O'Brien JT, Firbank M, Thomas A, Donaghy PC, Lehéricy S, Isabelle Arnulf, Vidailhet M, Corvol JC, Iceberg Study Group, Camicioli R, Chertkow H, Lewis S, Matar E, Ehgoetz Martens KA, Churchill L, Sommerauer M, Röttgen S, Borghammer P, Knudsen K, Hansen AK, Arnaldi D, Orso B, Mattioli P, Roccatagliata L, Monchi O, Rahayel S.   +40 more
core   +3 more sources

Dasatinib-induced nephrotic syndrome: a case of phenoconversion?

Croatian 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, Matišić, Vid, Arsov, Borna, Boban, Luka, Juginović, Alen, Molnar, Vilim, Primorac, Dragan   +6 more
openaire   +6 more sources

Fibrosis related inflammatory mediators: Role of the IL-10 cytokine family [PDF]

, 2015
Importance of chronic fibroproliferative diseases (FDs) including pulmonary fibrosis, chronic kidney diseases, inflammatory bowel disease, and cardiovascular or liver fibrosis is rapidly increasing and they have become a major public health problem ...
Béres, Nóra, Fekete, Andrea, Lippai, Rita, Pap, Domonkos, Szabó, Attila, Sziksz, Erna, Vannay, Ádám   +6 more
core   +5 more sources

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

Journal 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, Jean-François Gagnon, Amélie Pelletier, Jacques Y. Montplaisir, Geneviève Gagnon, Ronald B. Postuma   +5 more
doaj   +1 more source

Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at-risk observational study (PHAROS) [PDF]

, 2017
Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused by a cytosine-adenine-guanine ( CAG) triplet repeat expansion in the Huntingtin gene which was discovered in 1993. The PHAROS study is a unique observational study
Eberly, Shirley W., Huntington Study Group PHAROS Investigators, Kayson-Rubin, Elise, Oakes, David, Quaid, Kimberly A., Shoulson, Ira   +5 more
core   +1 more source

A retrotransposon storm marks clinical phenoconversion to late-onset Alzheimer’s disease

GeroScience, 2022
AbstractRecent reports have suggested that the reactivation of otherwise transcriptionally silent transposable elements (TEs) might induce brain degeneration, either by dysregulating the expression of genes and pathways implicated in cognitive decline and dementia or through the induction of immune-mediated neuroinflammation resulting in the ...
Macciardi, Fabio, Giulia Bacalini, Maria, Miramontes, Ricardo, Boattini, Alessio, Taccioli, Cristian, Modenini, Giorgia, Malhas, Rond, Anderlucci, Laura, Gusev, Yuriy, Gross, Thomas J, Padilla, Robert M, Fiandaca, Massimo S, Head, Elizabeth, Guffanti, Guia, Federoff, Howard J, Mapstone, Mark   +15 more
openaire   +5 more sources

Optimization of clonazepam therapy adjusted to patient's CYP3A-status and NAT2 genotype. [PDF]

, 2017
BACKGROUND: The shortcomings of clonazepam therapy include tolerance, withdrawal symptoms and adverse effects, such as drowsiness, dizziness and confusion leading to increased risk of falls.
Belic Ales, Bitter István, Csukly Gábor, Déri Máté, Háfra Edit, Kiss Ádám, Menus Ádám, Monostory Katalin, Sirok Dávid, Tóth Katalin   +9 more
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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting [PDF]

, 2016
This manuscript provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using
Agúndez, José A.G., Appell, Malin Lindqvist, Bell, Gillian C., Black, John Logan, Boukouvala, Sotiria, Bruckner, Carsten, Bruckner, Carsten, Bruford, Elspeth, Caudle, Kelly, Coulthard, Sally, Daly, Ann K., Del Tredici, Andria L., den Dunnen, Johan T, Drozda, Katarzyna, Everts, Robin, Flockhart, David, Freimuth, Robert, Gaedigk, Andrea, Hachad, Houda, Hartshorne, Toinette, Ingelman-Sundberg, Magnus, Kalman, Lisa V., Klein, Teri E., Lauschke, Volker M., Maglott, Donna R., McLeod, Howard L., McMillin, Gwendolyn A., Meyer, Urs A., Müller, Daniel J., Nickerson, Deborah A., Oetting, William S., Pacanowski, Michael, Pratt, Victoria M., Relling, Mary V., Roberts, Ali, Rubinstein, Wendy S., Sangkuhl, Katrin, Schwab, Matthias, Scott, Stuart A., Sim, Sarah C, Thirumaran, Ranjit K, Toji, Lorraine H., Tyndale, Rachel, van Schaik, Ron HN, Whirl-Carrillo, Michelle, Yeo, Kiang-Teck J, Zanger, Ulrich M.   +46 more
core   +1 more source

Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update [PDF]

, 2017
CYP2D6 and CYP2C19 polymorphisms affect the exposure, efficacy and safety of tricyclic antidepressants (TCAs), with some drugs being affected by CYP2D6 only (e.g., nortriptyline and desipramine) and others by both polymorphic enzymes (e.g., amitriptyline,
Bishop, Jeffrey R., Caudle, Kelly E., Dunnenberger, Henry M., Ellingrod, Vicki L., Gaedigk, Andrea, Hicks, J. Kevin, Kharasch, Evan D., Klein, Teri E., Müller, Daniel J., Sangkuhl, Katrin, Shimoda, Kazutaka, Skaar, Todd C., Stingl, Julia C., Swen, Jesse J.   +13 more
core   +1 more source

Autonomic dysfunction and phenoconversion in idiopathic REM sleep behavior disorder

Clinical Autonomic Research, 2020
REM sleep behavior disorder (RBD) is a common finding among patients with synucleinopathies. We aimed to determine the degree of autonomic dysfunction in patients presenting with idiopathic RBD (iRBD), and the predictive value of autonomic dysfunction for phenoconversion to a defined neurodegenerative disease.We searched our electronic medical record ...
Stuart J, McCarter, Tonette L, Gehrking, Erik K, St Louis, Mariana D, Suarez, Bradley F, Boeve, Michael H, Silber, Phillip A, Low, Wolfgang, Singer   +7 more
openaire   +3 more sources