Results 141 to 150 of about 147,891 (229)

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 569-578, March 2026.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

Thrombectomy versus Medical Management for Pediatric Acute Ischemic Stroke Due to Isolated M2 Occlusion: A Multicenter Cohort Study

Annals of Neurology, Volume 99, Issue 3, Page 684-691, March 2026.
Objective Endovascular thrombectomy (EVT) is increasingly used for pediatric large vessel occlusion (LVO) stroke, however, its role in isolated M2 occlusions remains underexplored. This study compared clinical outcomes in children with isolated M2 occlusion treated with EVT versus best medical therapy (BMT). Methods This multicenter cohort study pooled
Peter B. Sporns, Kartik D. Bhatia, Prakash Muthusami, Carmen Parra‐Farinas, Christine K. Fox, Adam A. Dmytriw, Basile Kerleroux, Sarah Lee, Jens Fiehler, Christian Lehmann, Franja Dugar, Todd Abruzzo, Lisa Pabst, Stuart Fraser, Lisa R. Sun, Grégoire Boulouis, Tanja Burkard, Olivier Naggara, Manoelle Kossorotoff, André Kemmling, Martin Olivieri, Mesha Martinez, Marios Psychogios, Thi Dan Linh Nguyen‐Kim, Moritz Wildgruber   +24 more
wiley   +1 more source

L’impact de la COVID‐19 sur l’expérience client en magasin

Canadian Journal of Administrative Sciences / Revue Canadienne des Sciences de l'Administration, Volume 43, Issue 1, March 2026.
ABSTRACT Customer experience, a key concept in marketing, consists of five dimensions (sensory, emotional, cognitive, behavioural and social) that can allow consumers to have a unique and pleasant experience. However, the COVID‐19 pandemic has significantly altered these dimensions and thus transformed the consumer's in‐store experience.
Samantha Langis, Isabelle Brun
wiley   +1 more source

New Adrenaline Devices for Treating Anaphylaxis: Results of a Joint Survey From the European Anaphylaxis Registry and the Allergy‐Vigilance Network

Clinical and Translational Allergy, Volume 16, Issue 3, March 2026.
ABSTRACT Background Adrenaline auto‐injectors (AAI) are underused to treat anaphylaxis. New adrenaline devices are currently under investigation or have been recently marketed. This survey aimed to assess the perspectives from allergy‐trained physicians regarding the AAI use and their expectations about new adrenaline devices.
Guillaume Pouessel, Sabine Dölle‐Bierke, Lea Faust, Dominique Sabouraud‐Leclerc, Yasemin Karaca‐Altintas, Margitta Worm   +5 more
wiley   +1 more source

Clinical, biological and cytometric characteristics of two patients with a homozygous A91V PRF1 mutation

Clinical &Translational Immunology, Volume 15, Issue 3, 2026.
Familial haemophagocytic lymphohistiocytosis (FHL) is a rare, inherited granzyme–perforin system defect that predisposes individuals to haemophagocytic lymphohistiocytosis. This article presents two original case reports of FHL type 2, along with a comprehensive literature review. Together, these elements aim to enhance the current understanding of FHL
Nicolas Perrard, Claire Poggi, Sébastien Sanges, Bruno Lemarchant, Wadih Abou Chahlah, Louis Terriou, Stéphanie Delangue, Jacques Trauet, Myriam Labalette, Eric Hachulla, Despina Moshous, Guillaume Lefevre, David Launay   +12 more
wiley   +1 more source

UMG1 Defines a Targetable Subset of T‐Cell Lymphomas and Enables Precision Immunotherapy With a First‐in‐Class CD3ε Bispecific Engager

Hematological Oncology, Volume 44, Issue 2, March 2026.
ABSTRACT T‐cell lymphomas (TCLs) account for a relatively small fraction of lymphoid malignancies and are characterized by highly aggressive course often refractory to current available therapies. We previously reported potent in vitro and in vivo antitumor activity of a Bispecific T‐Cell Engager (UMG1/CD3ε‐BTCE) directed against UMG1, a unique CD43 ...
Daniele Caracciolo, Carlo Gentile, Sara Squillacioti, Stefania Signorelli, Caterina Riillo, Pinuccia Faviana, Francesco Conforti, Katia De Ieso, Elisabetta Procopio, Emanuela Altomare, Nicoletta Polerà, Maria Gaetano, Estelle Balducci, Omer Beganovic, Franca Maria Tuccillo, Patrizia Bonelli, Katia Grillone, Ludovic Lhermitte, Pierosandro Tagliaferri, Pierfrancesco Tassone   +19 more
wiley   +1 more source

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare inherited metabolic disorder of the urea cycle, caused by partial or complete loss of arginase 1 function, characterised by hyperargininaemia and a distinct, progressive neurological phenotype. The clinical development programme of pegzilarginase, a recombinant human ARG1 enzyme therapy, provides
Mattias Rudebeck, Nancy Braverman, Richard Chang, Gregory M. Enns, Arunabha Ghosh, Magali Gorce, Daniela Karall, Reena Sharma, Emily Shelkowitz, Roberto Zori, Markey McNutt   +10 more
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

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Arginase 1 deficiency (ARG1D) is the least common urea cycle disorder. Neonatal onset is rarely described, and hyperammonemic coma is less common in patients with ARG1D compared to other urea cycle disorders. In recent years, we diagnosed a high number of ARG1D patients in Mayotte, an insular (Comoro Islands) department of France.
Aurélie De Bruyne, Apolline Imbard, Charles‐Joris Roux, Abdourhahim Chamouine, Camille Schwab, Anaïs Brassier, Jean‐Baptiste Arnoux, Juliette Bouchereau, Cécile Laroche‐Raynaud, Tristan Mekdade, Margaux Gaschignard, Claire‐Marine Berat, Clément Pontoizeau, Stéphanie Gobin‐Limballe, Pascale de Lonlay, Jean‐François Benoist, Manuel Schiff   +16 more
wiley   +1 more source

CHILDREN THOUGHTS about BRANDS [PDF]

The paper explores theoretically and empirically the brand concept among children. Group interviews were conducted to examine the children’s associations to this concept.
Ana Côrte-Real, Paulo Lencastre
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