Bibliographies thématiques / Sickle cell disease, Cardiomyopathy

Littérature scientifique sur le sujet « Sickle cell disease, Cardiomyopathy »

Auteur : Grafiati
Publié le 11 mars 2023

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Articles de revues sur le sujet "Sickle cell disease, Cardiomyopathy"

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Niss, Omar, Charles T. Quinn, Adam Lane, Joshua Daily, Philip R. Khoury, Nihal Bakeer, Thomas R. Kimball, Jeffrey A. Towbin, Punam Malik et Michael D. Taylor. « Cardiomyopathy With Restrictive Physiology in Sickle Cell Disease ». JACC : Cardiovascular Imaging 9, no 3 (mars 2016) : 243–52. http://dx.doi.org/10.1016/j.jcmg.2015.05.013.

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Palomarez, Alexis, Manisha Jha, Ximena Medina Romero et Renita E. Horton. « Cardiovascular consequences of sickle cell disease ». Biophysics Reviews 3, no 3 (septembre 2022) : 031302. http://dx.doi.org/10.1063/5.0094650.

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Sickle cell disease (SCD) is an inherited blood disorder caused by a single point mutation within the beta globin gene. As a result of this mutation, hemoglobin polymerizes under low oxygen conditions causing red blood cells to deform, become more adhesive, and increase in rigidity, which affects blood flow dynamics. This process leads to enhanced red blood cell interactions with the endothelium and contributes to vaso-occlusion formation. Although traditionally defined as a red blood cell disorder, individuals with SCD are affected by numerous clinical consequences including stroke, painful crisis episodes, bone infarctions, and several organ-specific complications. Elevated cardiac output, endothelium activation along with the sickling process, and the vaso-occlusion events pose strains on the cardiovascular system. We will present a review of the cardiovascular consequences of sickle cell disease and show connections with the vasculopathy related to SCD. We will also highlight biophysical properties and engineering tools that have been used to characterize the disease. Finally, we will discuss therapies for SCD and potential implications on SCD cardiomyopathy.
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Hammoudi, Nadjib, François Lionnet, Alban Redheuil et Gilles Montalescot. « Cardiovascular manifestations of sickle cell disease ». European Heart Journal 41, no 13 (21 avril 2019) : 1365–73. http://dx.doi.org/10.1093/eurheartj/ehz217.

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Abstract Sickle cell disease (SCD) is the most frequent genetic haemoglobinopathy worldwide. Early childhood mortality has dramatically decreased in high-income countries, and most patients now survive beyond the 5th decade. However, in the aging SCD population, the morbidity related to chronic organ damage, especially kidney and heart, has become a major concern. While pulmonary hypertension has attracted most attention, it appears that this condition is frequently linked to left heart failure (HF). Accordingly, SCD-associated cardiomyopathy is emerging as a major cause of reduced quality of life and early mortality in these patients. The diagnosis of this particular phenotype of high-output HF is challenging. Exercise intolerance and dyspnoea in SCD patients are linked to multiple causes including chronic anaemia. Moreover, echocardiographic features are unusual and can be misinterpreted. The classical diagnosis algorithm for HF is generally not suitable in SCD patients, and HF is poorly recognized and mostly diagnosed at a late congestive stage in routine practice. Such patients need to be identified at an earlier stage of myocardial dysfunction via improved phenotyping. This constitutes the first step towards further investigations in SCD needed to improve the prognosis and the quality of life. This article provides an updated review of the recent advances in the pathophysiology and diagnosis, and in addition, perspectives of new therapeutic approaches in SCD-related cardiac manifestations.
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Desai, Ankit A., Amit R. Patel, Homaa Ahmad, John V. Groth, Thejasvi Thiruvoipati, Kristen Turner, Chattanong Yodwut et al. « Mechanistic Insights and Characterization of Sickle Cell Disease–Associated Cardiomyopathy ». Circulation : Cardiovascular Imaging 7, no 3 (mai 2014) : 430–37. http://dx.doi.org/10.1161/circimaging.113.001420.

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Sachdev, Vandana, Matthew Hsieh, Neal Jeffries, Anna Noreuil, Wen Li, Stanislav Sidenko, Hwaida Hannoush et al. « Reversal of a rheologic cardiomyopathy following hematopoietic stem cell transplantation for sickle cell disease ». Blood Advances 3, no 19 (2 octobre 2019) : 2816–24. http://dx.doi.org/10.1182/bloodadvances.2019000387.

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Key Points Cardiac morphology improves significantly as early as 3 months after HSCT for SCD; these changes are maintained up to 1 year. Diastolic dysfunction is associated with mortality, and this study shows improvements in diastolic measures and other functional parameters.
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Ginwalla, Mahazarin, Abdullah AlMasoud, David Tofovic, Tara Alin, Sadeer Al-Kindi, Guilherme Oliveira, Sanjay Rajagopalan, Robert Schilz et Jane Little. « Cardiovascular evaluation and management of iron overload cardiomyopathy in sickle cell disease ». American Journal of Hematology 93, no 1 (23 octobre 2017) : E7—E9. http://dx.doi.org/10.1002/ajh.24924.

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Federti, Enrica, Iana Iatcenko, Alessandra Ghigo, Alessandro Mattè, Veronica Riccardi, Immacolata Andolfo, Angela Siciliano et al. « Colchicine Protects Against Cardiomyopathy in Humanized Mouse Model for Sickle Cell Disease ». Blood 140, Supplement 1 (15 novembre 2022) : 2513–14. http://dx.doi.org/10.1182/blood-2022-163037.

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Blinder, Morey A., Francis Vekeman, Alex Trahey, Medha Sasane, Carole S. Paley et Mei Sheng Duh. « Age-Related Blood Transfusion Patterns in Patients with Sickle Cell Disease (SCD) and the Association with Sickle Cell Complications ». Blood 118, no 21 (18 novembre 2011) : 12. http://dx.doi.org/10.1182/blood.v118.21.12.12.

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Abstract Abstract 12 Background: For patients with SCD, blood transfusion (tf) is the mainstay of treatment to prevent and alleviate SCD complications. Though the majority of patients in pediatric care often receive optimal preventive care, discrepancies are seen in care management of patients transitioning from pediatric to adult care as well as in adult patients. The study objectives were to evaluate blood transfusions patterns and incidence of SCD complications in pediatric and adult patients with a focus on those transitioning from pediatric to adult care. Methods: State Medicaid data from the FL (1998–2009), NJ (1996–2009), MO (1997–2010), IA (1998–2010), and KS (2001–2009) were used for this study. Patients with ≥2 SCD diagnoses (ICD-9 282.6x) and ≥1 tf following the 2nd SCD diagnosis were included in the analysis. Patients were followed for as long as they were enrolled in Medicaid. Quarterly rates of tf events, SCD complications, and prescriptions of hydroxyurea were calculated. Each tf event was defined as a unique day when at least one procedure code for packed RBCs, whole blood, or exchange tf was recorded. SCD complications included pain, infection, stroke, cardiomyopathy, renal disease, and Moyamoya disease. A logistic regression was used to assess associations between tf and transition age (<18 vs ≥18 yrs), population density of living area (urban, suburban, rural), state of residence, and SCD complications. An interaction term of transition age and SCD complications was also included to isolate the impact of SCD complications on tf between the pediatric and adult periods. Other covariates included prescription of hydroxyurea, tf during the previous quarter, other relevant medications (e.g.: pain medication, diuretics, anticoagulants), comorbidities (e.g.: hypertension, myocardial infarction, liver disease), and, serving as proxies for overall health status, the frequency of hospitalizations, emergency, and outpatient visits during the previous quarter. Results: A total of 3,208 patients were included (FL: 1,550, NJ: 992, MO: 489, KS: 121, IA: 56) in the study. Each patient was observed for an average (SD) of 6.0 (3.1) years. About 73% of patients lived in an urban area, 23% lived in suburban area, and 4% lived in a rural area. The rate of tf had a distinct bimodal pattern over ages. The rate of blood tf increased from 0.25 tf/pt/quarter at 1 year of age to a maximum of 0.54 tf/pt/quarter at 16 years old (Figure 1). After age 16, the tf rate decreased sharply to 0.29 tf/pt/quarter at age 26, and remained relatively stable thereafter. In contrast, the frequency of diagnoses for SCD complications increased markedly after age 16, reaching 2.92 diagnoses/pt/quarter at 28 years old and 3.50 diagnoses/pt/quarter at 40 years old (Figure 2). Pain was the most common complication, followed by infection, and renal disease. The frequency of diagnoses for cardiomyopathy slowly increased between 18 and 42 years old from 0.05 to 0.36 diagnoses/pt/quarter and then more than doubled to reach 0.80 diagnoses/pt/quarter at age 45 (Figure 2). Hydroxyurea use increased steadily up until age 18 and declined thereafter (Figure 1). Prescriptions for pain medications rose in a linear fashion from age 15 to 35 years from an average of 0.61 prescription/pt/quarter to 3.05 prescriptions/pt/quarter, and stayed high until the end of follow up. Results from the logistic regression showed that patients were less likely to receive blood tf post transition age (odds ratio [OR], ≥18 years old: 0.85, p=.014) and when receiving hydroxyurea (OR: 0.82, p<.001). In contrast, patients were more likely to receive tf if they lived in urban or suburban areas compared to rural areas (OR, urban: 3.65; suburban: 3.40; p<.001 for both) and experienced SCD complications (OR: 2.66, p<.001). The positive association between SCD complication and tf was stronger post transition age (OR, interaction between SCD complication and older age: 1.39, p<.001). Conclusions: Patients transitioning to adult care are transfused less frequently than pediatric patients and suffer from more frequent SCD related complications. These findings highlight the changes in treatment patterns corresponding to transition to adult care. While age related increases in SCD complications may be anticipated, the dramatic increase in complications along with the decline in tf frequency are likely to be due at least in part to inadequate transition to adult providers. Disclosures: Blinder: Novartis: Honoraria. Vekeman:Analysis Group: Analysis group received research grant from Novartis pharmaceuticals, Employment. Trahey:Analysis Group: Analysis Group received research grant from Novartis Pharmaceuticals, Employment. Sasane:Novartis Pharmaceuticals: Employment. Paley:Novartis Pharmaceuticals: Employment. Duh:Analysis Group: Analysis Group received research grant from Novartis Pharmaceuticals, Employment.
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Neumayr, Lynne, Ellen Fung, Paul Harmatz, Ellen Butensky, John Wood, Claudia Morris, Shanda Robertson, Meredith Milet et Elliott Vichinsky. « Left Ventricular Dysfunction in Chronically Transused Patients with Sickle Cell Anemia and Thalassemia. » Blood 108, no 11 (16 novembre 2006) : 3745. http://dx.doi.org/10.1182/blood.v108.11.3745.3745.

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Abstract BACKGROUND: Iron-induced cardiomyopathy has been extensively described in thalassemia (THAL) patients. Left ventricular (LV) dysfunction is the leading cause of death in THAL, with prevalence estimates ranging from 6% to 23%. Recent MRI techniques confirmed that T2* measurements consistent with elevated cardiac iron are associated with LV dysfunction and early mortality. Transfusion therapy is being increasingly used for the treatment and prevention of complications in sickle cell disease (SCD). By adulthood, the majority of SCD patients will have received multiple transfusions and nearly 1/3 will be iron-overloaded. However, cardiomyopathy, its prevalence, and the role of iron toxicity have not been studied in SCD. The Multicenter Study of Iron Overload, a 5-year prospective natural history study, enrolled 152 transfusion dependent THAL, 204 chronically transfused SCD (txSCD) and 64 control SCD in order to compare the effects of iron toxicity in these two diseases. We compared the prevalence of LV dysfunction and its relationship to iron-toxicity in THAL, txSCD and control SCD. METHODS AND RESULTS: Baseline or year 1 echocardiograms (ECHOs) were available in 45% of the patients (80 THAL, 94 txSCD and 16 SCD controls) and reviewed for evidence of LV dysfunction, defined as an ejection fraction ≤ 55% or shortening fraction ≤ 28%. Pulmonary hypertension (PHT) was defined as a tricuspid regurgitant jet velocity (TRV) ≥ 2.5 m/s or pulmonary artery pressure (PAP) ≥ 35 mmHg. ECHOs reported as normal, even without TRV or PAP recorded, were assumed to be negative for PHT. At study entry, THAL and txSCD patients were severely iron over-loaded and their average ferritin and liver iron concentrations were not significantly different: 3506 g/dl and 20 mg/g dry weight. (Serum ferritin in the control SCD was 120 g/dl.) The average age of the patients was 30.3 ± 12 yrs, and did not differ across the three groups. LV dysfunction was found in 22% THAL; THAL patients with LV dysfunction had been transfused longer than those with normal ECHOs (26.5 vs. 21.1 yrs, p=. 03). A subgroup of THAL was screened with cardiac MRI: 11/21 (52%) had evidence of cardiac iron deposition, 4 of these patients (36%) had LV dysfunction. In THAL screened with MRI, all patients with LV dysfunction had cardiac iron deposition. LV dysfunction was seen in 14% of txSCD but in 0% of the control SCD. txSCD patients with LV dysfunction were older (43.7 vs. 28.5, p <. 0001) and more likely to have PHT (75% vs. 22%, p < .001). PHT was more common in txSCD than THAL (29% vs. 15%, p=. 03) and found in 13% of the control SCD group. No txSCD patients were screened with MRI. CONCLUSIONS: LV dysfunction is common in transfusion dependent THAL and associated with duration of transfusion and iron deposition. In SCD, patients with cardiomyopathy were chronically transfused, older, and more likely to have PHT. SCD patients are developing iron overload similar to THAL; cardiac MRI studies are essential for the evaluation of iron deposition and its relationship to cardiomyopathy.
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Kamdar, Manali K., et Darla K. Liles. « Sudden Death in Adult Sickle Cell Patients : A Single Institutional Experience ». Blood 118, no 21 (18 novembre 2011) : 1061. http://dx.doi.org/10.1182/blood.v118.21.1061.1061.

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Abstract Abstract 1061 In 1994 Platt et al published the Cooperative Study of Sickle cell Disease (CSSCD) which evaluated the course of nearly 4,000 children and adults with sickle cell disease. This study was one of the largest studies to look at survival in sickle cell disease and suggested a median survival of 42 years for males and 48 years for females with homozygous SS disease. In the past 20 years numerous supportive care measures have been implemented and the impact of these on survival of our adult sickle cell patients is unclear. We undertook a retrospective review of charts and autopsies for all patients in our adult sickle cell clinic that died from the time of inception until 2010 to determine if there was any impact on cause of death We performed a retrospective chart review study of all deaths of our adult sickle cell patients since inception of the clinic in 1998. Of the 260 patients actively enrolled in our clinic, 36 died during the time period of 1998 to 2010. Thirty four patients had sickle cell disease, 2 patients had sickle beta thalassemia, and no patient had Hemoglobin SC disease. Data regarding cause of death was determined from autopsy reports and from hospital charts at the time of death. The median age at death was 40 yrs. Despite most patients dying at or before age 40, only 9 of the 36 (25%) patients had autopsies. The cause of death in the autopsies obtained included liver infarct(1), drug overdose (2), cardiomyopathy (3), pulmonary emboli(1), coronary artery dissection(1) and chest syndrome(1). Of the patients who did not undergo autopsy, cause of death was evident in the hospital chart in 9 of the remaining 27 patients. In this group of patients cause of death was noted to be intracranial hemorrhage (2), sepsis (3), small bowel obstruction (1), cancer (1), chest syndrome (1) and heart failure (1). The remainder of the 18 patients died unexpectantly of sudden cardio respiratory arrest of undetermined etiology. Five of these patients died at home and 13 patients died within 48 hours of being hospitalized for acute pain crisis. In chart review of these 18 patients 7 patients had hypertension and 9 patients had renal failure. Of these 18 patients prior echocardiographic data was available in 14 patients. Interestingly, 7 of the 14 patients had TR jet velocity >2.5 m/second. The incidence of TR jet velocity >2.5 m/sec is higher than the 25–30% cited by Gladwin et al in a general sickle cell population. In summary despite numerous advances in supportive care over the past 15 years since the CSSCD the mean age of death in our small group of patients was still in the fourth decade. As in the CSSCD the majority of patients still died of cardiac and pulmonary complications many of which were not evident at the time of hospitalization. This retrospective data suggests close monitoring of these patients during the first two days of hospitalization given the high incidence of sudden cardiac death in this population. This retrospective review also suggests the necessity for improved screening and treatment modalities to prevent cardiopulmonary complications such as pulmonary hypertension in this population. Disclosures: No relevant conflicts of interest to declare.
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Thèses sur le sujet "Sickle cell disease, Cardiomyopathy"

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Tozatto, Maio Karina. « Immunogenetics in sickle cell disease ». Thesis, Sorbonne Paris Cité, 2019. http://www.theses.fr/2019USPCC093.

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La drépanocytose est l’hémoglobinopathie héréditaire la plus fréquente, causée par un polymorphisme unique d’un nucléotide (SNP) dans le gène de la beta-globine (HBB). Ce SNP détermine la synthèse de l’hémoglobine S, qui polymérise lorsqu’elle est soumise au stress, et ceci change la forme des hématies drépanocytaires en faucille. Les drépanocytes sont moins déformables, plus adhérents à l’endothélium, et plus susceptibles à l’hémolyse. Les complications cliniques de la drépanocytose peuvent être expliquées par l’interaction entre la vaso-occlusion, l’hémolyse et l’activation inflammatoire résultant de la présence des drépanocytes dans la circulation. Les patients drépanocytaires peuvent présenter de nombreuses complications, qui touchent tous les organes. La présentation clinique de cette maladie est très hétérogène, variant entre des patients qui ont très peu de symptômes à des patients qui décèdent de la maladie. Sachant que l’inflammation joue un rôle majeur dans la physiopathologie de la drépanocytose, des polymorphismes dans les gènes inflammatoires peuvent être évoqués pour expliquer cette hétérogénéité. La greffe de cellules souches hématopoïétiques est la seule thérapie curative disponible actuellement pour la drépanocytose, avec des bons résultats démontrés après la greffe d’un donneur apparenté HLA identique. Néanmoins, la plupart des patients n’a pas de donneur apparenté. Les patients drépanocytaires sont d’origine africaine, le groupe ethnique le moins représenté dans les registres de donneurs non apparentés de cellules souches. A ce jour, peu d’études, utilisant des registres locaux, ont été faites pour estimer la probabilité des patients drépanocytaires de trouver un donneur potentiel non apparenté dans les registres internationaux.Cette étude a eu pour objectif d’évaluer le rôle de quelques gènes inflammatoires liés aux Toll-like récepteurs (TLR) dans la survenue des infections bactériennes chez les patients drépanocytaires, vu que les infections sont une cause majeure de mortalité chez ces patients, et les TLR sont impliqués dans la reconnaissance de plusieurs types de bactéries. Les patients inclus avaient des échantillons d’ADN et des données cliniques disponibles. Les SNPs ont été génotypés par réaction en chaîne par polymérase en temps réel (RT-PCR). Quatre-cents trente patients, la plupart d’origine brésilienne ou africaine subsaharienne, ont été divisés en deux groupes : infectés (n=235, patients qui ont eu au moins un épisode d’infection bactérienne documentée) et non infectés (n=195, patients qui n’ont jamais présentés d’infections sévères). Le génotype T/A du SNP rs4696480 in TLR2 a été plus fréquent chez les patients non infectés (50% versus 67%, OR=0.50, 95% CI 0.34-0.75, p<0.001). En outre, le génotype T/T de ce SNP a été plus fréquent chez les patients infectés (15% versus 5%, OR=0.50, 95% CI 0.34-0.75, p<0.001). Des études précédentes ont démontré que les individus A/A avaient plus de sécrétion de marqueurs inflammatoires, lorsque l’allèle T était associé à moins de fréquence et de sévérité des maladies inflammatoires. Cette étude a également eu pour objectif d’estimer la probabilité de trouver un donneur potentiel non apparenté, antigène leucocytaire humain (HLA) allélique identique pour les loci HLA-A, HLA-B et HLA-DRB1. Dans cette étude, 185 patients ont été inclus, 116 suivis dans un centre brésilien et 69 greffés d’un donneur apparenté ou non apparenté dans des centres de greffe qui reportent leurs données à la Société Européenne de Greffe de Cellules Souches (EBMT). Les patients inclus avaient des données HLA testés en moyenne ou haute résolution. Les haplotypes HLA ont été estimés à travers un logiciel, HaploStats, et classifiés selon l’ethnicité. Ensuite, nous avons recherché des potentiels donneurs HLA alléliques identiques pour les loci HLA-A, HLA-B et HLA-DRB1 (6/6) dans des registres internationaux (WMDA)
Sickle cell disease (SCD) is the most common inherited hemoglobinopathy, caused by a single nucleotide polymorphism (SNP) in the beta-globin (HBB) gene. This SNP determines the synthesis of S haemoglobin (HbS), which polymerizes under stress conditions, sickling the red blood cell (RBC). Sickle RBC are less deformable, more adherent to the endothelium, and more susceptible to haemolysis. SCD complications are explained by the interaction between haemolysis, vaso-occlusion and inflammatory activation, determined by the RBC sickling. Patients with SCD may present several complications, affecting all organs. Clinical presentation is very heterogeneous, ranging from patients who have mild symptoms to patients who die from disease complications. Because inflammation plays a major role in SCD, polymorphisms in inflammatory genes are potential targets to explain this heterogeneity. Haematopoietic stem cell transplantation (HSCT) is the only curative therapy currently available for SCD, with good results shown after human leukocyte antigen (HLA) identical sibling HSCT. However, most patients will not have a matched sibling donor. Patients with SCD are mostly from African origin, the less represented ethnic group in stem cell donor registries. To date, few studies using local registries were performed to find the probability of having a potential unrelated donor in SCD settings. This study aimed to assess the role of inflammatory genes encoding Toll-like receptors (TLR) in the occurrence of bacterial infections in patients with SCD, because infection is a leading cause of mortality in SCD, and TLR recognize a wide range of bacteria. Patients included had DNA samples and clinical data available. SNPs were genotyped by real-time polymerase chain reaction (RT-PCR). Four hundred thirty patients, mostly from Brazilian and Sub-Saharan African origin, were divided in two groups: infected (n=235, patients who presented at least one episode of bacterial infection), and non-infected (n=195, patients who never presented bacterial infections). The T/A genotype of SNP rs4696480 in TLR2 was less frequent in infected patients (50% versus 67%, OR=0.50, 95% CI 0.34-0.75, p<0.001). In addition, the T/T genotype of this SNP was more frequent among infected patients (15% versus 5%, OR=0.50, 95% CI 0.34-0.75, p<0.001). Previous reports in other settings showed that A/A carriers had higher secretion of inflammatory markers, while T allele was associated with less occurrence and severity of inflammatory diseases. Hence, T/A genotype might express the ideal inflammatory response to defeat bacteria, while the weaker inflammatory response determined by the T/T genotype increases susceptibility to bacterial infections in SCD settings
A doença falciforme (DF) é a hemoglobinopatia hereditária mais frequente, causada por um polimorfismo de nucleotídeo único (SNP) no gene da betaglobina (HBB). A ocorrência desse SNP determina a síntese de hemoglobina S, que polimeriza sob condições de stress, alterando a conformação das hemácias, que adquirem forma de drepanócitos. Os drepanócitos são menos deformáveis, mais aderentes ao endotélio e mais suscetíveis à hemolise. As complicações clínicas da DF podem ser explicadas pela interação entre a vasoclusão, hemólise e ativação inflamatória resultantes da presença dos drepanócitos na circulação. Os pacientes com DF podem apresentar numerosas complicações, que afetam todos os órgãos. A apresentação clínica da DF é muito heterogênea, variando de pacientes pouco sintomáticos a pacientes que falecem por complicações da doença. Visto que a inflamação tem um papel importante na fisiopatologia da DF, polimorfismos em genes inflamatórios poderiam explicar essa heterogeneidade.O transplante de células tronco hematopoiéticas (TCPH) é a única terapia curativa disponível atualmente para a DF, com bons resultados demonstrados em TCPH de doador aparentado antígeno leucocitário humano (HLA) idêntico. Não obstante, a maioria dos pacientes não dispõe de doador aparentado HLA idêntico. A DF ocorre em pacientes normalmente de origem africana, o grupo étnico menos representado em registro de doadores de células tronco. Nos dias de hoje, poucos estudos, utilizando registros locais, avaliaram a probabilidade de encontrar potenciais doadores não aparentados para pacientes com DF. Este estudo teve por objetivo avaliar o papel de genes inflamaórios que codificam receptores Toll-like (TLR) na ocorrência de infecções bacterianas em pacientes com DF, visto que infecção é uma das principais causas de mortalidade em DF, e os TLR reconhecem diversos tipos de bactérias. Os pacientes incluídos no estudo tinham amostras de DNA e dados clínicos disponiveis. Os SNPs foram genotipados por reação em cadeia de polimerase em tempo real (RT-PCR). Quatrocentos e trinta pacientes, a maioria de orgem brasileira ou africana subsaariana, foram divididos em dois grupos, infectados (n=235, pacientes que apresentaram ao menos um episodio de infecção bacteriana), e não infectados (n=195, pacientes que nunca tiveram tais infecções). O genótipo T/A do SNP rs4696480 foi menos frequente em pacientes infectados (50% versus 67%, OR=0.50, 95% CI 0.34-0.75, p<0.001). Além disso, o genótipo T/T do mesmo SNP foi mais frequente em pacientes infectados (15% versus 5%, OR=0.50, 95% CI 0.34-0.75, p<0.001). Estudos prévios mostraram que indivíduos com genótipo A/A apresentavam mais secreção de marcadores inflamatórios, enquanto o alelo T foi associado a menor ocorrência e menor gravidade de doenças inflamatórias
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Hays, Mary Margaret. « Stem cell transplant for sickle cell disease ». Thesis, Boston University, 2013. https://hdl.handle.net/2144/12117.

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Thesis (M.A.)--Boston University
Background: Sickle cell disease (SCD) is the most common inherited blood disorder in the United States. As SCD can cause significant morbidity and decrease in life expectancy, further research on curative options is of great interest. Hematopoietic stem cell transplant (HSCT) is the only treatment option offering a chance of cure, but the risks of treatment are not negligible. Because the outcomes of HSCT are best when the procedure is performed at a younger age, understanding what parents know about transplant, their opinion on this option and the risks they are willing to take to achieve a cure is of great value. As sickle cell disease has changed in the United States from a life-threatening condition of childhood to a chronic condition with most of the burden of morbidity and mortality shifted towards adulthood, it is necessary for parents to be fully aware of long term risks and educated on all therapeutic options, so the optimal decision can be made. Objectives: (i) To learn about parents’ recollection and pursuit of further information after undergoing an educational session on risks and benefits of HSCT. (ii) To learn about their worries about transplant and the highest mortality and infertility risks they are willing to accept in order to achieve a cure for their child. (iii) To learn about parents’ readiness to proceed to transplant based on a hypothetical scenario. [TRUNCATED]
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Kawadler, J. M. « Neuroimaging biomarkers in paediatric sickle cell disease ». Thesis, University College London (University of London), 2015. http://discovery.ucl.ac.uk/1464063/.

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Sickle Cell Disease (SCD) is a collection of genetic haemoglobinopathies, the most common and severe being homozygous sickle cell anaemia. In the UK, it has been estimated that 1 in 2000 children are born with SCD. The disease is characterised by chronic anaemia, recurrent pain crises and vascular occlusion. Neurologically, there is a high incidence of stroke in childhood, as well as cognitive dysfunction. Newborn screening programmes and preventative treatments have allowed a much longer lifespan; however recently, neurological research has shifted to characterising subtler aspects of brain development and functioning that may be critically important to the individual’s quality of life. This thesis overviews the neurological and neurocognitive complications of SCD, and how magnetic resonance imaging (MRI) can provide biomarkers for severity of disease. During the PhD, retrospective and prospective cognitive and MRI data were collected and analysed. Diagnostic clinical MRI sequences and advanced MRI sequences were applied, as well as a neuropsychological test battery aimed at intelligence and executive function. First, this thesis reviews the intelligence literature in SCD and includes previously unreported data, finding patients, regardless of abnormality seen on conventional MRI, have lowered full-scale intelligence quotient than controls. Then, to determine imaging biomarkers, volumetric differences and diffusion characteristics were identified. Patients were found to have decreased volumes of subcortical structures compared to controls, in groups corresponding to disease severity. Results from a three-year longitudinal clinical trial suggest evidence of atrophy in paediatric patients, with no apparent protective effect of treatment. Diffusion tensor imaging revealed reduced white matter integrity across the brain, correlating with recognised markers of disease severity (i.e. oxygen saturation and haemoglobin from a full blood count). Overall, the four experiments bridge a gap in the cognitive and neuroimaging literature of the extent of neurological injury in children with SCD.
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Gavlak, J. C. D. « Sleep in children with sickle cell disease ». Thesis, University College London (University of London), 2016. http://discovery.ucl.ac.uk/1528622/.

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BACKGROUND: Sickle Cell Anaemia (SCA) or homozygosity for the sickle haemoglobin gene (HbSS) is the most common genetic condition in the UK. A high prevalence of Sleep Disordered Breathing (SDB) in SCA is widely accepted but there is a lack of unselected population based studies. As Polysomnography (PSG) is expensive, screening for SDB using a robust tool, e.g. the Delta 12 (Δ12) index and 3% Oxygen Desaturation Indices (ODI) calculated from home pulse oximetry, should be validated. Elevated Cerebral Blood Flow Velocity (CBFV) is a predictor of stroke in SCA, and may be associated with SDB. METHODS AND RESULTS: Prevalence of OSA was assessed and compared with the general paediatric population from Polysomnography (SCA n=195) analysed using the American Academy of Sleep Medicine (AASM) criteria. Interobserver reliability between two observers was excellent. At all ages, the prevalence of OSA was higher in SCA. OSA prevalence was highest in young children, with 50% of 4-6 year olds having an obstructive apnoea hyopnoea index (OAHI) of >1. A zero inflated model was fitted for prediction of OAHI from Δ12 or ODI; for predicting OAHI zero or >1, 3% ODI alone had the best fit. In 83 London patients, OSA was associated with elevated CBFV. Mean SpO2, ODI and CAI were predictors of basilar velocity independent of age. In the final model, mean SpO2 remained a predictor (B-3.1, beta -0.41, t -4.2, p < 0.0005) independent of age (B- 2.9, beta -0,453, t -4.7, p < 0.0005). CONCLUSION: Despite the difficulties in comparing across populations, there is a higher prevalence of OSA in unselected children with SCA than in typically developing children with no SDB symptoms, screening with overnight pulse oximetry to select those with OAHI>1 is feasible, and this may be important as there is an association between OSA and basilar CBFV in this population.
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Gardner, Catherine Joanne. « Genotype-phenotype correlation in sickle cell disease ». Thesis, King's College London (University of London), 2017. https://kclpure.kcl.ac.uk/portal/en/theses/genotypephenotype-correlation-in-sickle-cell-disease(07a190be-c88a-41f2-8e74-e063d85919a3).html.

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Sickle cell disease (SCD) has a complex pathophysiology initiated by the polymerisation of deoxy-sickle-haemoglobin. The single nucleotide change underpinning SCD does not account for the vast range and severity of SCD complications. This clinical heterogeneity is only partly explained by the genetic variability of fetal haemoglobin gene levels and co-inheritance of α- thalassemia. Although environmental factors also contribute to the clinical complexity of SCD, further genetic modifiers of SCD severity exist but are yet to be determined. Genetic association studies have been boosted recently not only with the advent of new genotyping tools, but also with the development of increasingly sophisticated analytical methods. New developments in phenotyping, genotyping and genotype-phenotype association approaches allow us to disentangle true genetic associations from hits due to chance. This thesis seeks to investigate biomarkers of sickle severity and to use these clinical markers in genotype-phenotype correlation studies. I have investigated three key markers of disease severity: haemolysis, frequency of acute pain episodes and mortality. Estimated median survival of 67 years in HbSS disease in our UK cohort is a significant improvement in survival compared to other recent estimates in the USA and Jamaica. I have undertaken genome-wide micro-array scanning and created an imputed genotype dataset of over 15,000,000 genetic variants. I have used these phenotype and genotype datasets to conduct genetic association studies, both genome-wide and candidate gene association studies. These analyses are based on linear mixed modelling to account for relatedness (including population stratification) within the cohort. In addition to the severity outcomes, I have also evaluated the known genetic loci for HbF and created a genetic “summary statistic” to quantify the effects of these three loci. Finally, I have also assessed the role of the erythroid regulator KLF1 in HbF levels in SCD with two laboratory-based projects.
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Edmond, A. M. « The spleen in sickle cell disease in childhood ». Thesis, University of Cambridge, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.598759.

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Singhal, Atul. « Growth and metabolism in homozygous sickle cell disease ». Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.288009.

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Indik, Julia H., Vineet Nair, Ruslan Rafikov, Iwan S. Nyotowidjojo, Jaskanwal Bisla, Mayank Kansal, Devang S. Parikh et al. « Associations of Prolonged QTc in Sickle Cell Disease ». PUBLIC LIBRARY SCIENCE, 2016. http://hdl.handle.net/10150/622120.

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Sudden death is a leading cause of mortality in sickle cell disease, implicating ventricular tachyarrhythmias. Prolonged QTc on an electrocardiogram (ECG), commonly seen with myocardial ischemia, is a known risk for polymorphic ventricular tachycardia (VT). We hypothesized that prolonged QTc is associated with mortality in sickle cell disease. ECG were analyzed from a cohort of 224 sickle patients (University of Illinois at Chicago, UIC) along with available laboratory, and echocardiographic findings, and from another cohort of 38 patients (University of Chicago, UC) for which cardiac MRI and free heme values were also measured. In the UIC cohort, QTc was potentially related to mortality with a hazard ratio (HR) of 1.22 per 10ms, (P = 0.015), and a HR = 3.19 (P = 0.045) for a QTc>480ms. In multivariate analyses, QTc remained significantly associated with survival after adjusting for inpatient ECG status (HR 1.26 per 10ms interval, P = 0.010) and genotype status [HR 1.21 per 10ms interval, P = 0.037). QTc trended toward association with mortality after adjusting for both LDH and hydroxyurea use (HR 1.21 per 10ms interval, P = 0.062) but was not significant after adjusting for TRV. In univariate analyses, QTc was related to markers of hemolysis including AST (P = 0.031), hemoglobin (P = 0.014), TR velocity (P = 0.036), higher in inpatients (P<0.001) and those with an SS compared to SC genotype (P<0.001) in the UIC cohort as well as to free heme in the UC cohort (P = 0.002). These findings support a relationship of prolonged QTc with hemolysis and potentially mortality in sickle cell disease.
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JÃnior, Geraldo Bezerra da Silva. « Renal abnormalities in patients with sickle cell disease ». Universidade Federal do CearÃ, 2013. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=10491.

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nÃo hÃ
ABSTRACT Background - Kidney abnormalities are one of the main chronic complications of sickle cell disease (SCD). The aim of this study is to investigate the occurrence of renal abnormalities among patients with SCD. Methods - This is a cohort study with 26 SCD patients followed in a medical center in Fortaleza, CearÃ, Brazil. Urinary acidification and concentration tests were performed using calcium chloride (CaCl2), and after a 12h period of water and food deprivation. Fractional excretion of sodium (FENa), transtubular potassium gradient (TTKG) and solute free water reabsorption (TcH2O) were calculated. The SCD group was compared to a group of 15 healthy volunteers (control group). Aquaporin-2 (AQP2) and renal outer medullary K+ channels (ROMK) were quantified through exosomes search in urine. Results - Patient`s average age and gender were similar to controls. Urinary acidification deficit was found in 5 SCD patients (19.2%), who presented urinary pH > 5.5 after CaCl2 test. Urinary osmolality was significantly lower in SCD patients (355Â60 vs. 818Â202mOsm/kg, p=0.0001, after 12h period water deprivation). Urinary concentration deficit was found in all SCD patients (100%). FENa was higher among SCD patients (0.75Â0.3 vs. 0.55Â0.2%, p=0.02). The TTKG was higher in SCD patients (5.5Â2.5 vs. 3.0Â1.5, p=0.001), and TcH2O was lower (0.22Â0.3 vs. 1.1Â0.3L/day, p=0.0001). The search for AQP2 did not show significant difference between SCD patients and control group (102Â6.0 vs. 100Â7.2%, p=0.874), as well as for ROMK (172Â38 vs. 100Â25%, p=0.207). Conclusions - SCD is associated with important kidney dysfunction. The main abnormalities found were urinary concentrating and incomplete distal acidification defect. There was also an increase in the potassium transport and decrease in water transport, evidencing the occurrence of distal tubular dysfunction.
RESUMO IntroduÃÃo - AlteraÃÃes renais representam uma das complicaÃÃes crÃnicas principais da doenÃa falciforme (DF). O objetivo deste estudo à investigar a ocorrÃncia de alteraÃÃes renais em pacientes com DF. MÃtodos - Foi realizado estudo de coorte com 26 pacientes com DF acompanhados em um ambulatÃrio de Fortaleza, CearÃ, Brasil. Testes de acidificaÃÃo e concentraÃÃo urinÃrias foram realizados usando cloreto de cÃlcio (CaCl2) e apÃs perÃodo de 12h de jejum e privaÃÃo hÃdrica. Foram calculados fraÃÃo de excreÃÃo de sÃdio (FENa), transporte transtubular de potÃssio (TTKG) e transporte de Ãgua livre de solutos (TcH2O). O grupo de pacientes com DF foi comparado com um grupo de 15 voluntÃrios sadios (grupo controle). Os transportadores aquaporina-2 (AQP2) e canal de K+ apical (ROMK) foram quantificados pela pesquisa de exossomas na urina. Resultados - A mÃdia de idade e a distribuiÃÃo de gÃnero foi similar entre os dois grupos. DÃficit de acidificaÃÃo urinÃria foi encontrada em 5 pacientes com DF (19,2%), que apresentaram pH urinÃrio > 5,5 apÃs o teste com CaCl2. A osmolaridade urinÃria foi significativamente menor entre os pacientes com DF (355Â60 vs. 818Â202mOsm/kg, p=0,0001, apÃs perÃodo de 12h de jejum e privaÃÃo hÃdrica). DÃficit de concentraÃÃo urinÃria foi encontrado em todos os casos de DF (100%). A FENa foi maior entre os pacientes com DF (0,75Â0,3 vs. 0,55Â0,2%, p=0,02). O TTKG tambÃm foi maior nos pacientes com DF (5,5Â2,5 vs. 3,0Â1,5, p=0,001), e o TcH2O foi menor (0,22Â0,3 vs. 1,1Â0,3L/dia, p=0,0001). A pesquisa de AQP2 nÃo mostrou diferenÃa significativa em relaÃÃo ao grupo controle (102Â6,0 vs. 100Â7,2%, p=0,874), bem como a do canal ROMK (172Â38 vs. 100Â25%, p=0,207). ConclusÃo - A DF à associada a importantes alteraÃÃes renais. As principais alteraÃÃes encontradas foram dÃficit de concentraÃÃo e acidificaÃÃo urinÃria. Foi ainda observado aumento no transporte
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Wu, Li-Chen. « Correction of sickle cell disease by homologous recombination ». Thesis, Birmingham, Ala. : University of Alabama at Birmingham, 2008. https://www.mhsl.uab.edu/dt/2008p/wu.pdf.

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Livres sur le sujet "Sickle cell disease, Cardiomyopathy"

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Peak, Lizabeth. Sickle cell disease. Detroit : Lucent Books, 2008.

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Peak, Lizabeth. Sickle cell disease. Detroit : Lucent Books, 2008.

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Serjeant, Graham R. Sickle cell disease. 2e éd. Oxford : Oxford University Press, 1992.

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Sickle cell disease. Oxford : Oxford University Press, 1985.

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F, Whitten Charles, Bertles John F. 1925-, National Association for Sickle Cell Disease (U.S.) et New York Academy of Sciences., dir. Sickle cell disease. New York, N.Y : New York Academy of Sciences, 1989.

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Sickle cell disease. 2e éd. Oxford : Oxford University Press, 1992.

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Samuel, Charache, et Johnson Cage S, dir. Sickle cell disease. Philadelphia : W.B. Saunders, 1996.

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Eboh, Winifred Oluchukwu. Sickle cell disease. (Birmingham) : Birmingham Sickle Cell & Thalassaemia Centre, 1993.

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Jones, Phill. Sickle cell disease. New York : Chelsea House, 2008.

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McCormick, Marie, Henrietta Awo Osei-Anto et Rose Marie Martinez, dir. Addressing Sickle Cell Disease. Washington, D.C. : National Academies Press, 2020. http://dx.doi.org/10.17226/25632.

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Chapitres de livres sur le sujet "Sickle cell disease, Cardiomyopathy"

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Mallouh, Ahmad A. « Sickle Cell Disease ». Dans Textbook of Clinical Pediatrics, 3005–22. Berlin, Heidelberg : Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-02202-9_324.

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Kashani, John, Richard D. Shih, Thomas H. Cogbill, David H. Jang, Lewis S. Nelson, Mitchell M. Levy, Margaret M. Parker et al. « Sickle Cell Disease ». Dans Encyclopedia of Intensive Care Medicine, 2075–77. Berlin, Heidelberg : Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-00418-6_342.

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Fischer, Matt, Harsh Sachdeva et Alaa Abd-Elsayed. « Sickle Cell Disease ». Dans Pain, 1279–81. Cham : Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-99124-5_274.

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Roth, Elliot J. « Sickle-Cell Disease ». Dans Encyclopedia of Clinical Neuropsychology, 3180–81. Cham : Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-57111-9_2197.

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Chaudhury, Sonali, et Shalini Shenoy. « Sickle cell disease ». Dans Clinical Manual of Blood and Bone Marrow Transplantation, 236–45. Chichester, UK : John Wiley & Sons, Ltd, 2017. http://dx.doi.org/10.1002/9781119095491.ch27.

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Glassberg, Jeffrey, et Michael R. DeBaun. « Sickle Cell Disease ». Dans Respiratory Medicine, 131–38. Cham : Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-43447-6_11.

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Orellana, Juan, et Alan H. Friedman. « Sickle Cell Disease ». Dans Clinico-Pathological Atlas of Congenital Fundus Disorders, 101–4. New York, NY : Springer New York, 1993. http://dx.doi.org/10.1007/978-1-4613-9320-7_19.

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Roth, Elliot J. « Sickle-Cell Disease ». Dans Encyclopedia of Clinical Neuropsychology, 1–2. Cham : Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-56782-2_2197-2.

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Hood, Anna M., Emily A. McTate, Naomi E. Joffe et Lori E. Crosby. « Sickle Cell Disease ». Dans Clinical Handbook of Psychological Consultation in Pediatric Medical Settings, 341–54. Cham : Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-35598-2_26.

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Hyacinth, Hyacinth I., et Robert J. Adams. « Sickle Cell Disease ». Dans Stroke Genetics, 135–61. Cham : Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56210-0_9.

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Actes de conférences sur le sujet "Sickle cell disease, Cardiomyopathy"

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Glas-Greenwalt, P., J. Palascak, R. Gruppo, D. Stroop et V. Pollak. « DEFECTIVE FIBRINOLYSIS IN SICKLE CELL DISEASE ». Dans XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644838.

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Vasocclusive crises (VOC) cause significant morbidity and mortality in sickle cell disease (SCD). Although sickling is thought to be the predominant factor in VOC, investigators have examined the possible role of the hemostatic mechanism in the process. The data are, however, inconsistent. We studied, functionally with the fibrin plate method, the fibrinolytic system in 36 adults in the steady state and in 8 children, 7 of whom suffered from painful crises. Values in 240 normal blood donors were: tissue-type plasminogen activator activity (t-PA); 3-25 activator units/ml, corresponding to 0.04 to 0.4 ng/ml; plasminogen activator inhibitor (PA-I): 649-885 inhibitor units/ml; and α2-antiplasmin (α2-AP) : 718-970 inhibitor units/ml. In patients with sickle cell disease t-PA levels were below the normal range in 24/44. PA-I and α2-AP levels were elevated in 35/44 and 23/44 respectively. The prevalence was similar in patients in crises and quiescent. Functionally impaired t-PA was associated with either low, normal or high t-PA antigen levels measured immunologically with an ELISA technique (normal range: 3-6 ng/ml). This indicates various degrees of endothelial dysfunction, ranging from impaired synthesis to functionally defective protein to complex formation with PA-I. Fibrin has been implicated in the intravascular sludging of sickle cells. It is suggested that a defective fibrin-clearing system contributes to the syndrome of SCD.
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Hegemann, I., et J. Sangalli-Baruffaldi. « Evaluation of thrombin generation in patients with sickle cell disease in stable disease and sickle cell crises ». Dans 65th Annual Meeting of the Society of Thrombosis and Haemostasis Research. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1728172.

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Dautzenberg, M. D., F. Monge, A. M. Fischer, R. Girot et P. Cornu. « COAGULATION AND FIBRINOLYSIS IN SICKLE CELL DISEASE ». Dans XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643056.

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Sickled erythocytes appear to be primarily responsible for occlusion of microvasculature in patients with homozygous sickle cell disease (SCD), but it is unknown whether the activation of the coagulation pathway is also contributory to these vaso-occlusive crisis and other complications as leg ulcers, aseptic necrosis of bone, strokes. Thus, we studied coagulation and fibrinolysis parameters in 12 patients (ages 2 to 26 years with SCD, in steady-state, far from thrombotic events which occurred in 3 of them) to determine if it would be possible to detect a high-risk group for thrombosis. We were surprised to observe that all the vitamin K dependent factors levels (II, VII+X, IX, protein C) were found next to the lowest values of the normal range.But in 3 out of 12 patients, protein C was significantly lower and 2 of them have had thrombotic events (stroke, leg ulcers). Factor V level was in the normal range except for 3 patients with low levels. As other authors, we observed normal fibrinogen, plasminogen and a 2 antiplasmin values and always very high factor VIII levels. Antithrombin III activity was normal or even high contrasting with the lower levels of the other factors synthesized in the liver. However all these abnormalities seem to balance since the thrombin generation test performed in the patients plasmas are in the normal range. As a marker of high-risk group for thrombosis, fibrin-D-Dimer levels (using a latex bead agglutination assay) were measured and found to be positive in 4 patients, 3 of them having suffered from thrombosis associated in two cases with a protein C deficiency. Thus, if the hemostatic modifications observed are involved in the mechanism of thrombosis, fibrin-D-Dimer and protein C seem to be the most significant parameters in this study.
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Pollack, Y., E. McAllister, A. J. Dozor et S. S. Krishnan. « Ventilatory Homogeneity in Children with Sickle Cell Disease ». Dans American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a4674.

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Lunt, Alan C., Alice Chubb, Swee Lay Thein, Gerrard F. Rafferty et Anne Greenough. « Impulse Oscillometry In Adults With Sickle Cell Disease ». Dans American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a2179.

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Brzoska, T., E. V. Menchikova, T. W. Kaminski, R. Vats, E. Tutuncuoglu, S. P. Tofovic, E. K. Jackson, M. T. Gladwin et P. Sundd. « Impaired Platelet Purinergic Signaling in Sickle Cell Disease ». Dans American Thoracic Society 2021 International Conference, May 14-19, 2021 - San Diego, CA. American Thoracic Society, 2021. http://dx.doi.org/10.1164/ajrccm-conference.2021.203.1_meetingabstracts.a3300.

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Silveira Lopes, Jordana Alícia, Daniela de Oliveira Werneck Rodrigues, Amanda do Carmo Gusmão, Augusto Cézar Apolinário dos Santos, Nathalia Noyma Sampaio Magalhães, Olivia Franco dos Santos, Renato Lourenço de Medeiros, Rodrigo de Martin Almeida, Tássia Mariana Moreira da Paz et Thaís Sette Espósito. « NEUROPATHIC PAIN AMONG PATIENTS WITH SICKLE CELL DISEASE ». Dans Congresso Brasileiro de Reumatologia 2020. Sociedade Brasileira de Reumatologia, 2021. http://dx.doi.org/10.47660/cbr.2020.17217.

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Singh, Bikesh Kumar, et Hardik Thakkar. « Hydroxyurea Dosage Classification for Sickle Cell Disease Patients ». Dans 2021 6th International Conference on Inventive Computation Technologies (ICICT). IEEE, 2021. http://dx.doi.org/10.1109/icict50816.2021.9358788.

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Krivinskas, S., et B. Madden. « Rigid Bronchoscopy in Patients with Sickle Cell Disease ». Dans American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a1094.

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Hosseini, Poorya, Sabia Z. Abidi, Gregory J. Kato, Ming Dao, Zahid Yaqoob et Peter T. C. So. « Biophysical markers of Sickle Cell Disease at Individual Cell Level ». Dans Cancer Imaging and Therapy. Washington, D.C. : OSA, 2016. http://dx.doi.org/10.1364/cancer.2016.jtu3a.44.

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Rapports d'organisations sur le sujet "Sickle cell disease, Cardiomyopathy"

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Paul, Satashree. Turning Back the Sickle Cell Disease : A New Drug into Play. Science Repository OÜ, mai 2021. http://dx.doi.org/10.31487/sr.blog.38.

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Researchers at the Fulcrum Therapeutics developed a bioavailable drug candidate called FTX 6058 – (a novel small molecular fetal haemoglobin inducer for sickle cell disease) that can restore the body’s ability to produce fetal haemoglobin
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Krishnamurti, Lakshmanan, Deepika Darbari, Victor Gordeuk, Torria Beasely, Clark Brown, Syed Nouraie et Gregory Kato. Can Personalized Encouragement Help People With Sickle Cell Disease Take Hydroxyurea Therapy Regularly ? Patient-Centered Outcomes Research Institute® (PCORI), mai 2020. http://dx.doi.org/10.25302/05.2020.ce.13046859em.

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Lanzkron, Sophie, Jane Little, Joshua Field, J. Ryan Shows, Carlton Haywood Jr, Ravi Varadhan, Mustapha Saheed et al. Comparing Pain Management for Sickle Cell Disease Crises in Emergency Rooms and Infusion Centers. Patient-Centered Outcomes Research Institute (PCORI), août 2020. http://dx.doi.org/10.25302/08.2020.ihs.140311888.

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Krishnamurti, Lakshmanan, Diana Ross, Nitya Bakshi, Cynthia Brown Sinha et Geoerge Loewenstein. An Online Decision Aid to Help Patients and Caregivers Decide on Treatments for Sickle Cell Disease. Patient-Centered Outcomes Research Institute® (PCORI), janvier 2020. http://dx.doi.org/10.25302/1.2020.ce.12114318em.

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Marques, Carla, Larissa Lopes, Rita Lucena et Abrahão Baptista. Brain morphofunctional changes associated with pain in children, adolescents and young adults with sickle cell disease. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, décembre 2022. http://dx.doi.org/10.37766/inplasy2022.12.0022.

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Chou, Roger, Jesse Wagner, Azrah Y. Ahmed, Ian Blazina, Erika Brodt, David I. Buckley, Tamara P. Cheney et al. Treatments for Acute Pain : A Systematic Review. Agency for Healthcare Research and Quality (AHRQ), décembre 2020. http://dx.doi.org/10.23970/ahrqepccer240.

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Objectives. To evaluate the effectiveness and comparative effectiveness of opioid, nonopioid pharmacologic, and nonpharmacologic therapy in patients with specific types of acute pain, including effects on pain, function, quality of life, adverse events, and long-term use of opioids. Data sources. Electronic databases (Ovid® MEDLINE®, PsycINFO®, Embase®, the Cochrane Central Register of Controlled Trials, and the Cochrane Database of Systematic Reviews) to August 2020, reference lists, and a Federal Register notice. Review methods. Using predefined criteria and dual review, we selected randomized controlled trials (RCTs) of outpatient therapies for eight acute pain conditions: low back pain, neck pain, other musculoskeletal pain, neuropathic pain, postoperative pain following discharge, dental pain (surgical or nonsurgical), pain due to kidney stones, and pain due to sickle cell disease. Meta-analyses were conducted on pharmacologic therapy for dental pain and kidney stone pain, and likelihood of repeat or rescue medication use and adverse events. The magnitude of effects was classified as small, moderate, or large using previously defined criteria, and strength of evidence was assessed. Results. One hundred eighty-three RCTs on the comparative effectiveness of therapies for acute pain were included. Opioid therapy was probably less effective than nonsteroidal anti-inflammatory drugs (NSAIDs) for surgical dental pain and kidney stones, and might be similarly effective as NSAIDs for low back pain. Opioids and NSAIDs were more effective than acetaminophen for surgical dental pain, but opioids were less effective than acetaminophen for kidney stone pain. For postoperative pain, opioids were associated with increased likelihood of repeat or rescue analgesic use, but effects on pain intensity were inconsistent. Being prescribed an opioid for acute low back pain or postoperative pain was associated with increased likelihood of use of opioids at long-term followup versus not being prescribed, based on observational studies. Heat therapy was probably effective for acute low back pain, spinal manipulation might be effective for acute back pain with radiculopathy, acupressure might be effective for acute musculoskeletal pain, an opioid might be effective for acute neuropathic pain, massage might be effective for some types of postoperative pain, and a cervical collar or exercise might be effective for acute neck pain with radiculopathy. Most studies had methodological limitations. Effect sizes were primarily small to moderate for pain, the most commonly evaluated outcome. Opioids were associated with increased risk of short-term adverse events versus NSAIDs or acetaminophen, including any adverse event, nausea, dizziness, and somnolence. Serious adverse events were uncommon for all interventions, but studies were not designed to assess risk of overdose, opioid use disorder, or long-term harms. Evidence on how benefits or harms varied in subgroups was lacking. Conclusions. Opioid therapy was associated with decreased or similar effectiveness as an NSAID for some acute pain conditions, but with increased risk of short-term adverse events. Evidence on nonpharmacological therapies was limited, but heat therapy, spinal manipulation, massage, acupuncture, acupressure, a cervical collar, and exercise were effective for specific acute pain conditions. Research is needed to determine the comparative effectiveness of therapies for sickle cell pain, acute neuropathic pain, neck pain, and management of postoperative pain following discharge; effects of therapies for acute pain on non-pain outcomes; effects of therapies on long-term outcomes, including long-term opioid use; and how benefits and harms of therapies vary in subgroups.
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What support do young people with sickle cell disease need when moving into adult services ? National Institute for Health Research, juin 2021. http://dx.doi.org/10.3310/alert_46618.

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