Results 91 to 100 of about 209,491 (261)
Xstainer: A Novel Virtual Staining Tool Powered by Advanced Deep Learning Techniques
Advanced Intelligent Systems, EarlyView.Xstainer is a deep learning–based virtual staining framework that converts hematoxylin and eosin‐stained whole slide images into multiple histochemical stains, including Masson's trichrome, Periodic acid‐Schiff, Jones methenamine silver, and Toluidine blue.Fatma Nur Kinali, Derya Demir, Kutsev B. Ozyoruk, Yasin Almalioglu, Emre C. Kose, Drew F. K. Williamson, Gurdeniz Serin, G. Evren Keles, Banu S. Kumbaraci, Ceren Utku, Uguray P. Hacisalihoglu, Ilknur Turkmen, Figen Ozturk, Kayhan Basak, Yavuz Nuri Ertas, Mehmet Turan +15 morewiley +1 more sourceThe IL‐10/IL‐6 Ratio and the Risk Score: Two Cytokines‐Based Predictors for Malignancy‐Associated Hemophagocytic Lymphohistiocytosis in Adults (M‐HLHa)
American Journal of Hematology, EarlyView.ABSTRACT
The predictive value of cytokines (CK) for malignancy‐associated adult hemophagocytic lymphohistiocytosis (M‐HLHa) remains uncertain. We evaluated a cytokine‐based Risk Score (RS) and the IL‐10/IL‐6 Ratio to predict M‐HLHa. Adult patients (n = 112) from the French HLH cohort (NCT02113917) with complete data for nine key HLH related CK measured Coralie Bloch, Stephanie Chhun, Nanthara Sritharan, Marine Gil, Raphael Lhote, Marouane Boubaya, Olivier Lambotte, David Launay, Claire Larroche, Estibaliz Lazaro, Francois Liffermann, Marc Michel, Jean‐Marie Michot, Pierre Morel, Louis Terriou, Geoffrey Urbansk, Jean‐Francois Viallard, Morgane Cheminant, Felipe Suarez, Yves Lepelletier, Geneviève de Saint Basile, Olivier Hermine, the French HLH Study Group, Coralie Bloch, Jean Philippe Jais, Francois Liffermann, Pierre Morel, Morgane Cheminant, Felipe Suarez, Olivier Hermine, Fabrice Bonnet, Pascal Godemer, Damaj Gandhi, Olivier Fain, Olivier Lambotte, David Launay, Louis Terriou, Claire Larroche, Estibaliz Lazaro, Jean‐Francois Viallard, Francois Liffermann, Olivier Lortholary, Marc Michel, Jean‐Marie Michot, Pierre Morel, Frederic Pene, Antoinette Perlat, Geoffrey Urbanski +47 morewiley +1 more sourceUndetectable Hydroxyurea Levels in the Majority of Sickle Cell Disease Patients, Especially in Young Children
American Journal of Hematology, EarlyView.ABSTRACT
Hydroxyurea (HU) is the most widely prescribed disease‐modifying treatment in sickle cell disease (SCD), though treatment responses vary due to metabolism and adherence. We examined HU blood levels and treatment response in patients with homozygous sickle cell disease (HbSS).Sigrid van der Veen, Bart J. Biemond, Marjon H. Cnossen, Pablo Bartolucci, Maria P. Boaro, Betzabel Cajiao Garcia, Raffaella Colombatti, M. D'Agnolo, Karin Fijnvandraat, Anna Collado Gimbert, Amira Idrizovic, Petros Kountouris, Mar Mañú‐Pereira, Elisabetta Mezzalira, Mariane de Montalembert, Erfan Nur, A. Pham Hung D' Alexandry D'Orengiani, Tiziana Sanavia, Saskia E. M. Schols, Marissa J. M. Traets, Minke A. E. Rab, Sara I. Reidel, Anita W. Rijneveld, Yosr Zaouali, Nanda M. Verhoeven‐Duif, Judith J. M. Jans, Eduard J. van Beers +26 morewiley +1 more source15 - Tamsulosin in lower urinary tract dysfunctions of patients with Multiple Sclerosis
Continence, 2023 Leonardo Martino, Giuseppe Ciavarella, Antonio Fanelli, Francesco Cinelli, Nicola d’Altilia, Pasquale Annese, Gian Maria Busetto, Carlo Bettocchi, Emanuele D’Amico, Luigi Cormio, Giuseppe Liuzzi, Vincenzo Pagliarulo, Giuseppe Carrieri, Vito Mancini +13 moredoaj +1 more sourceThe Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron +11 morewiley +1 more sourceResponse of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler +17 morewiley +1 more sourceStreamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales +16 morewiley +1 more sourceWCN24-574 PLASMA EXCHANGE: EXPERIENCE FROM THE NEPHROLOGY DEPARTMENT AT SAHLOU CHU SOUSSE. TUNISIA
Kidney International ReportsNdiaga Sow, Awatef Azzabi, Raja Boukadida, Wissal Sahtout, Sanda Mrabet, Rihem Dahmane, Mariam Sadaoui, Asma Fradi, Nesrine Thabet, Zeinabou Dede, Nerjes Ben Aicha, Achraf Jaziri, Maha Araoud, Yosra Guedri, Olfa Mahfoud, Dorsaf Zellama +15 moredoaj +1 more sourceHistidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar +23 morewiley +1 more source