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American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel
Arthritis &Rheumatology, EarlyView.Objective
Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heilblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson +111 morewiley +1 more sourceNano‐networks via reaction‐induced self‐assembly coordinate spatiotemporal multi‐drug delivery for acute kidney injury therapy
BMEMat, EarlyView.Multifunctional nano‐networks (NNWs) are prepared via reaction‐induced self‐assembly (RISA) of spermidine (SPD), epigallocatechin gallate (EGCG), 2‐formylphenylboronic acid (2‐FPBA), and deferoxamine (DFO) through dynamic iminoboronate bonds. These NNWs leverage the oxidative AKI microenvironment to trigger disintegration, enabling site‐specific ...Juan Jin, Xiao Zhang, Chenxi Wang, Taian Jin, Xinyang Fang, Yixuan Gao, Mengchun Chen, Weiyang Meng, Chang Gao, Wenlu Li, Yuanfeng Li, Yijie Chen, Calvin A. Omolo, Thirumala Govender, Linqi Shi, Yunguang Wang, Yong Liu, Qiang He +17 morewiley +1 more sourceSafety and efficacy of blood exchange transfusion for priapism complicating sickle cell disease. [PDF]
, 2016 BACKGROUND: Priapism is unwanted painful penile erection that affects about 36% of boys and men with sickle cell disease (SCD) most of whom have sickle cell anemia. Clinically, priapism could be stuttering, minor, or major.Adeyoju, Ayache, Ballas, Ballas, Baron, Betke, Charache, Eckman, Emond, Harms, Janes, Mantadakis, Okpala, Powars, Rackoff, Rogers, Seeler, Serjeant, Serjeant, Sharpsteen, Siegel, Talacki, Teixeira, US Department of Health and Human Services +23 morecore +2 more sourcesEffect of Epigallocatechin‐3‐Gallate on Depression‐Related Cytokines in Thalassemia Patients: Molecular and Cellular Evaluation
Journal of Clinical Laboratory Analysis, EarlyView.This study investigates the effects of Epigallocatechin‐3‐Gallate (EGCG), a potent anti‐inflammatory polyphenol isolated from Winged Marigold, on cytokine expression linked to depression in β‐thalassemia patients. EGCG demonstrated dose‐dependent suppression of key inflammatory cytokines (IL‐6, IL‐1β, TNF‐α, IFN‐γ) at both gene and protein levels ...Mohammed N. Salman, Fouad Razzaq Al‐Burki, Hazim Ali Hussein, Laith A. Younus, Fadhil A. Nasser, Hasanain A. A. Almohseni +5 morewiley +1 more sourceLow prevalence of an acute phase response in asymptomatic children from a malaria-endemic area of Papua New Guinea [PDF]
, 2007 Levels of C-reactive protein (CRP), a classic marker for the acute phase response (APR), were measured in children with asymptomatic malaria infection in the Amele region of Papua New Guinea (PNG).Day, KP, Fowkes, FJI, Imrie, H, Luty, AJF, Michon, P, Reeder, JC, Tavul, L +6 morecore Cytoprotective effects of the antioxidant phytochemical indicaxanthin in beta-thalassemia red blood cells [PDF]
, 2006 Antioxidant phytochemicals are investigated as novel treatments for supportive therapy in b-thalassemia. The dietary
indicaxanthin was assessed for its protective effects on human b-thalassemic RBCs submitted in vitro to oxidative haemolysis
by cumene ...Allegra, M., Butera, D., Gentile, C., Livrea, M., Tesoriere, L. +4 morecore +1 more sourceAlpha- Thalassemia: An Overview
Scholars Journal of Applied Medical Sciences, 2023 Alpha-Thalassemia is the commonest hereditary monogenic disease worldwide. α-thalassemia is caused by α-globin gene losses and categorized into α-thalassemia 1 and α-thalassemia 2 depending on how many α-globin genes are functioning. Α thalassemia 1 is defined by inactivation of both α-globin genes on a chromosome, while in α-thalassemia 2, one gene is openaire +1 more sourceHeterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions
Prenatal Diagnosis, EarlyView.ABSTRACT Aim
In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results
These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij +11 morewiley +1 more sourceRevealing the molecular signatures of host-pathogen interactions. [PDF]
, 2011 Advances in sequencing technology and genome-wide association studies are now revealing the complex interactions between hosts and pathogen through genomic variation signatures, which arise from evolutionary co ...C Herdtweck, C Loscos, C Sik-Lányi, F Yan, G Xing, GJ Ward, H Kolivand, H Kolivand, Hoshang Kolivand, J Blinn, J Hensley, K Jacobs, K Kaneda, K Kilteni, K Tadamura, KL Wilson, Kolivand, L Hosek, M Aittala, M Haller, M Kanbara, M Knecht, M Slater, M Sunar, Mohd Shahrizal Sunar, MS Sunar, MZ Shao, N Greene, P Debevec, R Azuma, R Ji, R Ji, R Kittler, R Kittler, R Kittler, R Klassen, R Perez, RC Yeoh, Rongrong Ji, S Gibson, S Lee, T Annen, T Guan, T Naemura, T Nishita, W Donnelly, W Hartmann, W Reeves, Y Dobashi, Y Dobashi, Y Feng, Y Liu, Y Liu, Z Noh +53 morecore +13 more sourcesDiagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT
Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews +6 morewiley +1 more source