Results 131 to 140 of about 21,286 (221)

Drug‐Induced Raynaud's Phenomenon and Underlying Mechanism: A Disproportionality Analysis From the World Health Organization Pharmacovigilance Database

Arthritis &Rheumatology, EarlyView.
Objectives The aim of this study is to generate hypotheses about unknown drugs associated with the onset or worsening of Raynaud's phenomenon (RP) and to explore their potential pathophysiologic mechanisms through a mixed disproportionality/clustering analysis from the World Health Organization (WHO) pharmacovigilance database.
Alex Hlavaty, Loubna Dari, Jean‐Luc Cracowski, Matthieu Roustit, Charles Khouri   +4 more
wiley   +1 more source

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate. [PDF]

Neuropediatrics
Brands MM, de Puyraimond C, Gospe SM, Schiff MM, Jaeger B, Koot BG, Raphael MF, Lubout CM, Soto B, Delanne J, Imbard A, Zempel J, Kraal KC, Scheenstra R, Clayton PT.   +14 more
europepmc   +1 more source

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

Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran. [PDF]

Orphanet J Rare Dis
Nasri M, Mahdieh N, Abbasi F, Mohsenipour R, Abdolahpour S.   +4 more
europepmc   +1 more source

Decision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome

Arthritis &Rheumatology, Accepted Article.
Objective To develop evidence‐based criteria to classify SURF patients. Methods 112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification
Riccardo Papa, Francesca Bovis, Silvia Federici, Serena Palmeri, Marta Bustaffa, Giada Recchi, Roberta Bertelli, Roberta Caorsi, Stefano Volpi, Sabrina Fuehner, Veysel Cam, Anna Kozáková, Šárka Horáčková Fingerhutová, Antonella Insalaco, Dirk Foell, Seza Ozen, Isabella Ceccherini, Marco Gattorno, on behalf of the Eurofever study group for the Classification criteria of recurrent fevers and PerSAID project, Michael Hofer, Federica Vanoni, Jordi Anton, Juan Ignacio Arostegui, Karyl S. Barron, Eldad Ben‐Chetrit, Paul Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenke, Raphaela Goldbach‐Mansky, Ahmet Gul, Veronique Hentgen, Hal M. Hoffman, Tilmann Kallinich, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Daniel L. Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto   +54 more
wiley   +1 more source

Association of maternal biliary disease with hepatopancreatobiliary morbidity in offspring. [PDF]

J Pediatr Gastroenterol Nutr
Auger N, Magri A, Kang-Auger S, Jutras G, Healy-Profitós J, Bilodeau-Bertrand M, Côté-Corriveau G.   +6 more
europepmc   +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

Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia. [PDF]

Mol Syndromol
Bayrak H, Sharafi P, Özketen AÇ, Kılıç M.   +3 more
europepmc   +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

Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns. [PDF]

Commun Med (Lond)
Hao C, Hu X, Guo R, Qi Z, Xie L, Jin F, Li H, Ni X, Li W.   +8 more
europepmc   +1 more source