Results 141 to 150 of about 150,095 (242)

Dissecting minimal residual disease dynamics to improve outcome prediction in mantle cell lymphoma: Data from the Fondazione Italiana Linfomi (FIL)‐MCL0208 clinical trial

HemaSphere, Volume 10, Issue 5, May 2026.
Abstract Recent clinical trials have underscored the value of repeated minimal residual disease (MRD) measurements as a highly sensitive method for detecting subclinical disease and enabling dynamic risk stratification in hematologic malignancies. Despite its clinical potential, the complex and heterogeneous nature of MRD kinetics presents significant ...
Francesca Cordero, Simone Ferrero, Simone Pernice, Elisa Genuardi, Daniela Volpatto, Roberta Sirovich, Aurora Maria Civita, Andrea Evangelista, Simone Ragaini, Alice Di Rocco, Alessandro Re, Vittorio Stefoni, Federica Cavallo, Carola Boccomini, Monica Balzarotti, Vittorio Ruggero Zilioli, Maria Gomes da Silva, Luca Arcaini, Melania Celli, Gian Maria Zaccaria, Dora Tortarolo, Marco Beccuti, Eva Hoster, Christiane Pott, Elizabeth Macintyre, Olivier Hermine, Martin Dreyling, Marco Ladetto   +27 more
wiley   +1 more source

Risk of persistent hypogammaglobulinaemia in children with autoimmune bullous dermatoses treated with rituximab

Journal of the European Academy of Dermatology and Venereology, EarlyView.
S. Benkimoun, A. Welfringer‐Morin, V. Barlogis, R. Gravier Dumonceau, E. Bourrat, C. Chiaverini, C. Léauté‐Labrèze, P. Joly, B. Tedbirt, A.‐C. Bursztejn, G. Font, C. Bodemer, M.‐A. Richard, S. Mallet, Groupe Bulles of the French Society of Dermatology; Clinical Research Group of the French Society of Pediatric Dermatology   +14 more
wiley   +1 more source

Aminoacyl‐tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear‐encoded ARS genes, comprising both cytosolic (ARS1) and mitochondrial (ARS2) isoforms, have now been linked to human disease.
M. I. Mendes, D. E. Smith, V. Spek, A. M. Bosch, W. E. Corpeleijn, M. Engelen, S. A. Fuchs, A. Hadchouel, I. U. Heinemann, R. H. Houtkooper, E. M. M. Hoytema van Konijnenburg, S. Kemp, M. Langeveld, C. D. M. Karnebeek, A. Pop, V. M. Siu, N. I. Wolf, G. S. Salomons   +17 more
wiley   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Pyridox(am)ine‐5′‐phosphate oxidase (PNPO) deficiency is characterized by early‐onset epileptic encephalopathy refractory to standard antiseizure medications. It is caused by variants in the PNPO gene, resulting in deficient PNPO enzyme activity, which normally converts pyridoxine‐5′‐phosphate and pyridoxamine‐5′‐phosphate (two vitamers of ...
Chloé de Puyraimond, Samia Pichard, Muriel Girard, Julian Delanne, Laurence Faivre, Apolline Imbard, Amandine Baurand, Jean‐François Benoist, Philippa B. Mills, Peter T. Clayton, Manuel Schiff   +10 more
wiley   +1 more source

Congenital CMV Infection: Determination of Transplacental Passage of Aciclovir by Ex Vivo Placental Perfusion

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 6, Page 1241-1248, May 2026.
ABSTRACT Objective To quantify the transplacental transfer of aciclovir at an amount equivalent to 2 g of valaciclovir corresponding to the fractionated dosing regimen given four times daily used to reduce congenital cytomegalovirus (CMV) transmission and to treat the CMV‐infected fetus. Design Experimental ex vivo study.
Helyett Ollivier, Valentine Faure Bardon, Leo Froelicher Bournaud, Isidore Gaubert, Tiffany Guilleminot, Marianne Leruez‐Ville, Jean‐Marc Treluyer, Yves Ville, Gabrielle Lui, Julien Stirnemann   +9 more
wiley   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, Volume 104, Issue 3, Page 267-279, May 2026.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Le caractère changeant ce la race en contexte migratoire: « À Montréal je ne suis pas considérée comme une personne blanche. Au Brésil, oui. »

Canadian Review of Sociology/Revue canadienne de sociologie, Volume 63, Issue 2, May 2026.
ABSTRACT This article draws on the analysis of semi‐structured interviews to compare the immigration experiences of queer individuals from the Global North with those of their counterparts from the Global South. It examines the process of racialization experienced by some of these individuals upon arrival in Quebec/Canada, the transformation of this ...
Barbara Andrade de Sousa, Line Chamberland   +1 more
wiley   +1 more source

The Gay Parental Turn: Canadian Gay Fathers and the Reorganization of Care and Community

Canadian Review of Sociology/Revue canadienne de sociologie, Volume 63, Issue 2, May 2026.
ABSTRACT Community has long been key to the well‐being of gay men, yet little research examines how gay fathers, specifically, relate to the broader LGBTQ+ community. Drawing on interviews with 18 mostly White, (upper‐) middle‐class Canadian gay fathers, I investigate their expectations and experiences of family and community, showing they describe ...
S. W. Underwood
wiley   +1 more source

Fracture des premiers pas occulte à la radiographie chez une enfant de 3 ans. [PDF]

CMAJ
Iio K, Kimura Y.
europepmc   +1 more source