Results 201 to 210 of about 2,167,838 (317)

Defining Optimally Safe and Effective Blood Levels of Hydroxychloroquine in Lupus: An Important Step toward Precision Drug Monitoring

Arthritis &Rheumatology, Accepted Article.
Background Using hydroxychloroquine (HCQ) dose of 5 mg/kg/day in systemic lupus erythematosus (SLE) is associated with a higher risk of flares; HCQ blood level monitoring could be a better way to adjust HCQ dose. We studied the upper threshold for a reference range of HCQ levels to inform routine monitoring.
Shivani Garg, Benoît Blanchet, Yann Nguyen, Fauzia Hollnagel, Ada Clarke, Michelle Petri, Murray B. Urowitz, John G. Hanly, Caroline Gordon, Sang‐Cheol Bae, Juanita Romero‐Diaz, Jorge Sanchez‐Guerrero, Ann E. Clarke, Sasha Bernatsky, Daniel J. Wallace, David A. Isenberg, Anisur Rahman, Joan T. Merrill, Paul R. Fortin, Dafna D. Gladman, Ian N. Bruce, Ellen M. Ginzler, Mary Anne Dooley, Rosalind Ramsey‐Goldman, Susan Manzi, Andreas Jönsen, Graciela S. Alarcón, Ronald F. Van Vollenhoven, Cynthia Aranow, Véronique Le Guern, Meggan Mackay, Guillermo Ruiz‐Irastorza, S. Sam Lim, Murat Inanc, Kenneth C. Kalunian, Søren Jacobsen, Christine A. Peschken, Diane L. Kamen, Anca Askanase, Jill Buyon, Julie Chezel, Alicja Puszkiel, Nathalie Costedoat‐Chalumeau   +42 more
wiley   +1 more source

OGFRL1 deficiency causes CRMO via pathological osteoclastogenesis, with therapeutic response to TNF inhibitor

Arthritis &Rheumatology, Accepted Article.
Objectives To verify the pathogenesis of the OGFRL1 loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a CRMO patient and investigate the underlying mechanism. Methods Whole exome sequencing and Sanger sequencing were performed to identify and confirm the variant.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Is there a reduction of congenital abnormalities in the offspring of diabetic pregnant women after folic acid supplementation? A population‐based case‐control study

Congenital Anomalies, 2011
F. Bánhidy, Abdallah Dakhlaoui, E. Puhó, A. Czeizel   +3 more
semanticscholar   +1 more source

Head Growth Trajectories During the First Year of Life and Risk of Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Atypical infant head circumference (HC)—including increased rates of macrocephaly and microcephaly—has been linked to autism spectrum disorder (ASD). However, specific head growth trajectories associated with ASD remain poorly defined. This retrospective case–control study aimed to delineate these trajectories and examine their relationship to
Rewaa Balaum, Leena Elbedour, Einav Alhozyel, Gal Meiri, Dikla Zigdon, Analya Michaelovski, Orly Kerub, Idan Menashe   +7 more
wiley   +1 more source

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. [PDF]

Genet Med
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF.   +27 more
europepmc   +1 more source

A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins. [PDF]

Mol Syndromol, 2020
Atli EI, Atli E, Yalcintepe S, Gurkan H.
europepmc   +1 more source

Chronic hypertension with related drug treatment of pregnant women and congenital abnormalities in their offspring: a population-based study

Hypertension Research, 2011
F. Bánhidy, N. Ács, E. Puhó, A. Czeizel   +3 more
semanticscholar   +1 more source

An open‐label, single‐arm, dose‐escalating concentration–QT study to investigate the cardiac effects and safety of paroxetine in healthy adults

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims Paroxetine is a selective serotonin reuptake inhibitor (SSRI), approved for treatment of major depressive disorder and anxiety disorders. Some SSRIs are known to prolong the QT interval; however, clinical evidence to establish a lack of association between paroxetine and corrected QT interval (QTc) prolongation is limited. Therefore, this
Sven C. van Dijkman, Mathieu Félices, Bhaskar Pandurangavittal, Sanman Ghorpade, Caroline Easterbrook, Marcin Zabielski, Oscar Della Pasqua   +6 more
wiley   +1 more source

Cytogenetic Analyses in Ewes with Congenital Abnormalities of the Genital Apparatus. [PDF]

Animals (Basel), 2019
Albarella S, D'Anza E, Galdiero G, Esposito L, De Biase D, Paciello O, Ciotola F, Peretti V.   +7 more
europepmc   +1 more source

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe [PDF]

, 2012
Diana Wellesley, Helen Dolk, Patricia A. Boyd, Ruth Greenlees, Martin Haeusler, Vera Nelen, Ester Garne, Babak Khoshnood, Bérénice Doray, Anke Rißmann, Carmel Mullaney, Elisa Calzolari, Marian K. Bakker, Joaquín Salvador, Marie‐Claude Addor, Elizabeth S. Draper, Judith Rankin, David Tucker   +17 more
openalex   +1 more source