"Resilience?" perspectives from adults living with sickle cell disease
CONCLUSION: This study suggests that current definitions of resilience used in validated survey measures do not match how adults living with SCD define resilience. Our results expand the understanding of resilience as a dynamic process, more about the process of "not giving up." These findings suggest that providers may find it productive to facilitate conversations with adults living with SCD around "how" they approach challenges. This study is also the first of its kind to examine resilience in a community living with SCD.PMID:38538428 | DOI:10.1016/j.jnma.2024.01.002 (Source: Journal of the National Medical Association)
Source: Journal of the National Medical Association - March 27, 2024 Category: General Medicine Authors: Corinne April I Conn Melissa S Creary Stacy Desine Vence L Bonham Source Type: research
Utility of Hemoglobin Electrophoresis to Distinguish Between Severe Delayed Hemolytic Transfusion Reaction Versus Hyperhemolysis Syndrome
Delayed hemolytic transfusion reaction (DHTR) and hyperhemolysis syndrome (HHS) are both complications of red blood cell transfusions in patients with sickle cell disease.Clinically, both present with hemolysis and can be difficult to differentiate. Hemoglobin electrophoresis may aid in the diagnosis. Herein we describe a case in which a patient with hemoglobin SC disease presented with features of severe hemolysis several days after initiation of red blood cell exchange. Increase in reticulocyte count and complete absence of hemoglobin A on electrophoresis during this event supported the diagnosis of severe DHTR, indicati...
Source: Transfusion and Apheresis Science - March 27, 2024 Category: Hematology Authors: Robert Lukin, Jennie Y. Law, Parvez M. Lokhandwala Source Type: research
Genes, Vol. 15, Pages 408: Genome-Wide Analysis of Exertional Rhabdomyolysis in Sickle Cell Trait Positive African Americans
The objective of this study was to elucidate the genetic basis of ERM in an SCT-positive African American cohort. SCT-positive African Americans with a personal history of ERM (cases, n = 30) and without history of ERM (controls, n = 53) were enrolled in this study. Whole-genome sequencing was performed on DNA samples isolated from peripheral white blood cells. Participants’ demographic, behavioral, and medical history information was obtained. An additional 131 controls were extracted from SCT-positive subjects of African descent from the 1000 Genomes Project. SCT carriers with ERM were characterized by myot...
Source: Genes - March 26, 2024 Category: Genetics & Stem Cells Authors: Mingqiang Ren Nyamkhishig Sambuughin Ognoon Mungunshukh Daniel Baxter Edgeworth Daniel Hupalo Xijun Zhang Matthew D. Wilkerson Clifton L. Dalgard Francis G. O ’Connor Patricia A. Deuster Tags: Article Source Type: research
Endari treatment ameliorates sickle cell-related disruption in intestinal barrier functions and is associated with prolonged survival in sickle cell mice
CONCLUSION: Our findings provide the evidence supporting the beneficial effects of Enadri in improving intestinal barrier function and associated survival outcomes in SCD.PMID:38526293 | DOI:10.1080/16078454.2024.2331940 (Source: Hematology)
Source: Hematology - March 25, 2024 Category: Hematology Authors: Elio Haroun Seah H Lim Dibyendu Dutta Source Type: research
Machine learning to optimize automated RH genotyping using whole-exome sequencing data
In conclusion, machine learning improved the accuracy of RH predication from WES data. RHtyper has the potential, once implemented, to provide a precision medicine-based approach to facilitate RH genotype-matched transfusion and improve transfusion safety for patients with SCD.PMID:38522094 | DOI:10.1182/bloodadvances.2023011660 (Source: Adv Data)
Source: Adv Data - March 24, 2024 Category: Epidemiology Authors: Ti-Cheng Chang Jing Yu Zhaoming Wang Jane S Hankins Mitchell J Weiss Gang Wu Connie Marie Westhoff Stella T Chou Yan Zheng Source Type: research
Successes and pitfalls in orphan drug development for sickle cell disease
Blood Adv. 2024 Mar 24:bloodadvances.2023011730. doi: 10.1182/bloodadvances.2023011730. Online ahead of print.ABSTRACTSickle cell disease (SCD) is a hereditary red cell disorder with large global burden problem. In the United States (US) and Europe, medicines may qualify for orphan designation (OD), a regulatory status that provides incentives to boost development. We evaluated the development of new therapies for SCD using data for OD granted in the US and Europe over the last two decades (2000-2021). We analyzed their characteristics, pathophysiological targets, trends, and OD sponsors. We then investigated the approval ...
Source: Adv Data - March 24, 2024 Category: Epidemiology Authors: Enrico Costa Antonella Isgr ò Mariane de Montalembert Hubert G M Leufkens Russell E Ware Lucia De Franceschi Source Type: research
Thrombin activatable fibrinolysis inhibitor plasma levels and TAFI Thr325Ile genetic polymorphism in a cohort of Egyptian sickle cell disease patients and impact on disease severity
CONCLUSION: The analysis of Thr325Ile polymorphisms combined with plasma TAFI levels suggests that the analyzed SNP could influence plasma TAFL levels and SCD disease severity and hospitalization rates, which could be predictors for complex disease.PMID:38520679 | DOI:10.1002/pbc.30959 (Source: Cancer Control)
Source: Cancer Control - March 23, 2024 Category: Cancer & Oncology Authors: Mona Hamdy Iman A Shaheen Mohamed Khallaf Yasmeen M M Selim Source Type: research
Disparities in pediatric hospital use during transition to adult healthcare for young adults with childhood ‐onset chronic conditions
ConclusionYA with SCD used pediatric hospitals less than YA with either CF or CHD. Coupled with our findings that Black YA with CF and CHD had less pediatric hospital use, these data may reflect systematic racial differences within pediatric to adult healthcare transition programs. (Source: Journal of Hospital Medicine)
Source: Journal of Hospital Medicine - March 23, 2024 Category: Hospital Management Authors: Ashley M. Jenkins,
Sophie Lanzkron,
Katherine A. Auger Tags: ORIGINAL RESEARCH Source Type: research
Endothelial LAT1 (SLC7A5) Mediates S-Nitrosothiol Import and Modulates Respiratory Sequelae of Red Blood Cell Transfusion In Vivo
CONCLUSION: This is the first study showing a role for SNO transport by LAT1 in ECs in a genetic mouse model. We provide the first direct evidence for the coordination of RBC SNO export with EC SNO import via LAT1. SNO flux via LAT1 modulates RBC-EC sequestration in lungs after transfusion, and its disruption impairs blood oxygenation by the lung.PMID:38519039 | DOI:10.1055/s-0044-1782182 (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - March 22, 2024 Category: Hematology Authors: Hongmei Zhu Richard L Auten Augustus Richard Whorton Stanley Nicholas Mason Cheryl B Bock Gary T Kucera Zachary T Kelleher Aaron T Vose Tim J McMahon Source Type: research
Endothelial LAT1 (SLC7A5) Mediates S-Nitrosothiol Import and Modulates Respiratory Sequelae of Red Blood Cell Transfusion In Vivo
CONCLUSION: This is the first study showing a role for SNO transport by LAT1 in ECs in a genetic mouse model. We provide the first direct evidence for the coordination of RBC SNO export with EC SNO import via LAT1. SNO flux via LAT1 modulates RBC-EC sequestration in lungs after transfusion, and its disruption impairs blood oxygenation by the lung.PMID:38519039 | DOI:10.1055/s-0044-1782182 (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - March 22, 2024 Category: Hematology Authors: Hongmei Zhu Richard L Auten Augustus Richard Whorton Stanley Nicholas Mason Cheryl B Bock Gary T Kucera Zachary T Kelleher Aaron T Vose Tim J McMahon Source Type: research
