scholarly journals Removal of Arterial Vessel Contributions in Susceptibility-Weighted Images for Quantification of Normalized Visible Venous Volume in Children with Sickle Cell Disease

2017 ◽  
Vol 2017 ◽  
pp. 1-8
Author(s):  
Adam M. Winchell ◽  
Ruitian Song ◽  
Ralf B. Loeffler ◽  
Winfred C. Wang ◽  
Jane S. Hankins ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cell Disease ◽  
Prospective Longitudinal Study ◽  
Arterial Vessel ◽  
Before And After ◽  
Venous Volume ◽  
Prospective Longitudinal ◽  
Accurate Quantification

Purpose. To evaluate a new postprocessing framework that eliminates arterial vessel signal contributions in the quantification of normalized visible venous volume (NVVV, a ratio between venous and brain volume) in susceptibility-weighted imaging (SWI) exams in patients with sickle cell disease (SCD). Materials and Methods. We conducted a retrospective study and qualitatively reviewed for hypointense arterial vessel contamination in SWI exams from 21 children with SCD. We developed a postprocessing framework using magnetic resonance angiography in combination with SWI to provide a more accurate quantification of NVVV. NVVV was calculated before and after removing arterial vessel contributions to determine the error from hypointense arterial vessels in quantifying NVVV. Results. Hypointense arterial vessel contamination was observed in 86% SWI exams and was successfully corrected by the proposed method. The contributions of hypointense arterial vessels in the original SWI were significant and accounted for approximately 33% of the NVVV [uncorrected NVVV = 0.012 ± 0.005 versus corrected NVVV = 0.008 ± 0.003 (mean ± SD), P<0.01]. Conclusion. Hypointense arterial vessel contamination occurred in the majority of SWI exams and led to a sizeable overestimation of the visible venous volume. A prospective longitudinal study is needed to evaluate if quantitation of NVVV was improved and to assess the role of NVVV as a biomarker of SCD severity or stroke risk.

Development of Psycho-Intellectual Performances of Transplanted Sickle Cell Disease Patients: a Prospective Study From Pre-Transplant Period to 5 Years After HSCT.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 522-522
Author(s):  
Jacqueline Bockenmeyer ◽  
Karima Yakouben ◽  
Dalila Adjaoud ◽  
Brigitte Lescoeur ◽  
Marie Ouachée-Chardin ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Full Scale ◽  
Cell Disease ◽  
Cerebral Lesions ◽  
Ischemic Lesion ◽  
Prospective Longitudinal Study ◽  
Previous Stroke ◽  
Before And After ◽  
Prospective Longitudinal

Abstract Abstract 522 Rationale: Allogeneic hematopoietic stem-cell transplantation (HSCT) is the only curative treatment for sickle cell disease (SCD). Cerebral vasculopathy with or w/o stroke or ischemic lesion was the principal indication for transplantation. All the patients received grafts from a sibling donor after a myeloablative conditioning regimen (Bu 16mg/kg; cyclophosphamide 200mg/kg; ATG). These children could present impaired neuro-psychological development related to different causes as frequent impaired familial socio-economic situation, previous cerebral lesions and aggressive therapy like HSCT. Then, it appears very interesting to explore their intellectual capacities before and after transplantation. Material and Methods: We conduct a prospective longitudinal study from 1992 to 2009 in all SCD patients who underwent HSCT before 2006. Evaluations were performed by Wechsler scales, either WISC (Wechsler Intelligence Scale for Children) III and IV (before and after 2003), for patients older than 6 years or by WPPSI (Wechsler Preschool and Primary Scale of Intelligence) R and III (before and after 2002), for patients younger than 6 years of age. The more recent scale versions evaluate four different indices - Verbal Comprehension (VCI), Perceptual Reasoning (PRI), Working Memory (WMI) and Processing Speed (PSI) that lead to calculate full scale Intellectual Quotient (IQ). Results: 15 out of 18 transplanted SCD patients were evaluated before transplantation, 36 and 48-60 months after HSCT (1 pt died during HSCT procedure; 1 was too young for pre-HSCT evaluation; 1 refused tests). There were 8 females and 7 males (median age 8.9y, range 4.7-13.3). All but 1 were from sub-saharian Africa and have lived in France with their family for several years. All patients but 2 have experimented ischemic stroke before HSCT. The 2 remaining pts presented with severe cerebral vasculopathy. Mean and median full scale IQ were 85±15 and 87, 87±15 and 94, 95±12 and 94 before, 36 months and 48-60 months after HSCT, respectively. Details of progression of different indices are indicated in figure 1. Discussion: At pre-HSCT evaluation, mean full scale IQ is 85, i.e.”low average”. This relative poor result could be related to impairment of PSI that reflects frequent grapho-motor abnormalities related to previous stroke experimented by almost all patients. At 3 years post-HSCT, all indices including IQ increase. Only PSI was decreased, this observation being potentially related to previous stroke–as before HSCT–and to the depression frequently experimented by transplanted patient after “acute phase” of this procedure, when disease is cured. At 5 years after HSCT, mean full scale IQ increases dramatically (+10 points) since all other indices have progress, particularly PSI. However, PSI remains the most impaired one. Conclusion: At the end of follow-up, patients improve their physical and psychological well-being. This allowed them to build project for future and to manifest the desire of becoming adult. BMT in this cohort of children with SCD and severe cerebral vasculopathy is associated to improvement of performances measured by Wechsler scale. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Antiphospholipid Antibodies in Sickle Cell Disease: A Systematic Review and Exploratory Meta-Analysis

2021 ◽  
Vol 27 ◽  
pp. 107602962110029
Author(s):  
Mira Merashli ◽  
Alessia Arcaro ◽  
Maria Graf ◽  
Matilde Caruso ◽  
Paul R. J. Ames ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Antiphospholipid Antibodies ◽  
Meta Analysis ◽  
Age Groups ◽  
Anticardiolipin Antibodies ◽  
Cell Disease ◽  
Pooled Prevalence ◽  
The Relationship

The relationship between antiphospholipid antibodies (aPL) and sickle cell disease (SCD) has never been systematically addressed. Our aim was to evaluate potential links between SCD and aPL in all age groups. EMBASE/PubMed was screened from inception to May 2020 and Peto odds ratios for rare events were calculated. The pooled prevalence (PP) of IgG anticardiolipin antibodies (aCL) was higher in individuals with SCD than in controls (27.9% vs 8.7%, P < 0.0001), that of IgM aCL was similar in the two groups (2.9% vs 2.7%); only individuals with SCD were positive for lupus anticoagulant (LA) (7.7% vs 0%, P < 0.0001). The PP of leg ulcers was similar between aPL positive and negative individuals (44% vs 53%) and between patients in acute crisis and stable patients (5.6% vs 7.3%). Reporting of aPL as a binary outcome and not as a titer precluded further interpretation. The results indicate that a prospective case-control study with serial measurements of a panel of aPL in SCD patients might be warranted, in order to understand further the possible pathogenic role of aPL in SCD.

scholarly journals Sickle Cell Disease: Role of Oxidative Stress and Antioxidant Therapy

Antioxidants ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 296
Author(s):  
Rosa Vona ◽  
Nadia Maria Sposi ◽  
Lorenza Mattia ◽  
Lucrezia Gambardella ◽  
Elisabetta Straface ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Globin Gene ◽  
Organ Damage ◽  
Cell Disease ◽  
Vessel Occlusion ◽  
Antioxidant Agents ◽  
Oxidant Status

Sickle cell disease (SCD) is the most common hereditary disorder of hemoglobin (Hb), which affects approximately a million people worldwide. It is characterized by a single nucleotide substitution in the β-globin gene, leading to the production of abnormal sickle hemoglobin (HbS) with multi-system consequences. HbS polymerization is the primary event in SCD. Repeated polymerization and depolymerization of Hb causes oxidative stress that plays a key role in the pathophysiology of hemolysis, vessel occlusion and the following organ damage in sickle cell patients. For this reason, reactive oxidizing species and the (end)-products of their oxidative reactions have been proposed as markers of both tissue pro-oxidant status and disease severity. Although more studies are needed to clarify their role, antioxidant agents have been shown to be effective in reducing pathological consequences of the disease by preventing oxidative damage in SCD, i.e., by decreasing the oxidant formation or repairing the induced damage. An improved understanding of oxidative stress will lead to targeted antioxidant therapies that should prevent or delay the development of organ complications in this patient population.

Role of Adhesion Molecules and Vascular Endothelium in the Pathogenesis of Sickle Cell Disease

Hematology ◽  
2007 ◽  
Vol 2007 (1) ◽  
pp. 84-90 ◽  
Author(s):  
Marilyn J. Telen
Keyword(s):  
Sickle Cell Disease ◽  
Red Blood Cells ◽  
Adhesion Molecules ◽  
Sickle Cell ◽  
Vascular Endothelium ◽  
Blood Cells ◽  
Cell Disease ◽  
Adhesive Interactions ◽  
Lines Of Evidence

AbstractA number of lines of evidence now support the hypothesis that vaso-occlusion and several of the sequelae of sickle cell disease (SCD) arise, at least in part, from adhesive interactions of sickle red blood cells, leukocytes, and the endothelium. Both experimental and genetic evidence provide support for the importance of these interactions. It is likely that future therapies for SCD might target one or more of these interactions.

Vaso-occlusion in sickle cell disease: pathophysiology and novel targeted therapies

Hematology ◽  
2013 ◽  
Vol 2013 (1) ◽  
pp. 362-369 ◽  
Author(s):  
Deepa Manwani ◽  
Paul S. Frenette
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Targeted Therapies ◽  
Therapeutic Intervention ◽  
Fetal Hemoglobin ◽  
Cell Disease ◽  
The Past ◽  
Symptomatic Management

Abstract Recurrent and unpredictable episodes of vaso-occlusion are the hallmark of sickle cell disease. Symptomatic management and prevention of these events using the fetal hemoglobin–reactivating agent hydroxyurea are currently the mainstay of treatment. Discoveries over the past 2 decades have highlighted the important contributions of various cellular and soluble participants in the vaso-occlusive cascade. The role of these elements and the opportunities for therapeutic intervention are summarized in this review.

scholarly journals Influence of Haptoglobin Polymorphism on Stroke in Sickle Cell Disease Patients

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 144
Author(s):  
Olivia Edwards ◽  
Alicia Burris ◽  
Josh Lua ◽  
Diana J. Wilkie ◽  
Miriam O. Ezenwa ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Blood Cells ◽  
Cell Disease ◽  
Free Hemoglobin ◽  
Cerebral Tissue ◽  
Sickle Hemoglobin ◽  
Haptoglobin Polymorphism

This review outlines the current clinical research investigating how the haptoglobin (Hp) genetic polymorphism and stroke occurrence are implicated in sickle cell disease (SCD) pathophysiology. Hp is a blood serum glycoprotein responsible for binding and removing toxic free hemoglobin from the vasculature. The role of Hp in patients with SCD is critical in combating blood toxicity, inflammation, oxidative stress, and even stroke. Ischemic stroke occurs when a blocked vessel decreases oxygen delivery in the blood to cerebral tissue and is commonly associated with SCD. Due to the malformed red blood cells of sickle hemoglobin S, blockage of blood flow is much more prevalent in patients with SCD. This review is the first to evaluate the role of the Hp polymorphism in the incidence of stroke in patients with SCD. Overall, the data compiled in this review suggest that further studies should be conducted to reveal and evaluate potential clinical advancements for gene therapy and Hp infusions.

scholarly journals Causal role of L-glutamine in sickle cell disease painful crises: a Mendelian randomization analysis

2019 ◽  
Author(s):  
Yann Iboudo ◽  
Melanie E. Garrett ◽  
Pablo Bartolucci ◽  
Carlo Brugnara ◽  
Clary B. Clish ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Small Molecules ◽  
Causal Relationship ◽  
Sickle Cell ◽  
Drug Targets ◽  
Mendelian Randomization ◽  
Cell Disease ◽  
Aseptic Necrosis ◽  
Randomization Analysis

ABSTRACTIn a recent clinical trial, the metabolite L-glutamine was shown to reduce painful crises in sickle cell disease (SCD) patients. To confirm this observation and identify other metabolites implicated in SCD clinical heterogeneity, we profiled 129 metabolites in the plasma of 705 SCD patients. We tested correlations between metabolite levels and six SCD-related complications (painful crises, cholecystectomy, retinopathy, leg ulcer, priapism, aseptic necrosis) or estimated glomerular filtration rate (eGFR), and used Mendelian randomization (MR) to assess causality. We found a causal relationship between L-glutamine levels and painful crises (N=1,278, odds ratio (OR) [95% confidence interval] = 0.68 [0.52 – 0.89], P=0.0048). In two smaller SCD cohorts (N=299 and 406), the protective effect of L-glutamine was observed (OR=0.82 [0.50-1.34]), although the MR result was not significant (P=0.44). We identified 66 significant correlations between the levels of other metabolites and SCD-related complications or eGFR. We tested these correlations for causality using MR analyses and found no significant causal relationship. The baseline levels of quinolinic acid was associated with prospectively ascertained survival in SCD patients, and this effect was dependent on eGFR. Metabolomics provide a promising approach to prioritize small molecules that may serve as biomarkers or drug targets in SCD.

scholarly journals Role of heme oxygenase 1 in cardiac ferroptosis in sickle cell disease

2021 ◽  
Vol 35 (S1) ◽  
Author(s):  
Archita Venugopal Menon ◽  
Hanting Tsai ◽  
Seungjeong Yang ◽  
Jonghan Kim
Keyword(s):  
Sickle Cell Disease ◽  
Heme Oxygenase ◽  
Sickle Cell ◽  
Heme Oxygenase 1 ◽  
Cell Disease
Sign in / Sign up

Export Citation Format

Share Document