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Sickle cell disease

Pacint Moez, Reham Moftah, Hayam A Mahmoud
Sickle cell haemoglobinopathy is a genetic disorder caused by the presence of haemoglobin S (HbS) including sickle cell disease (SCD) (sickle cell anemia, HbS/β -thalassaemia and HbSC disease) and sickle cell trait. In Siwa Oasis, most remote oasis town in Egypt, the prevalence rate of sickle cell haemoglobinopathy is approaching 20%. The Xmn 1 polymorphism was reported to increase the HbF level ameliorating the severity of the SCD. The present study aims mainly to investigate the genotype frequency of -158Gγ (C→T) Xmn1 polymorphism in Siwa Oasis, Egypt and to study, if possible, any association with increased HbF expression...
June 2018: Journal of Genetics
Scott K Ferguson, Katherine Redinius, Ayla Yalamanoglu, Julie W Harral, Jin Hyen Baek, David Pak, Zoe Loomis, Daniel Hassel, Paul Eigenberger, Eva Grayck, Rachelle Nuss, Kathryn Hassell, Kurt R Stenmark, Paul W Buehler, David C Irwin
KEY POINTS SUMMARY: Sickle cell disease (SCD) results in cardiopulmonary dysfunction, which may be exacerbated by prolonged exposure to environmental hypoxia. It is currently unknown if exposure to mild and moderate altitude exacerbates SCD associated cardiopulmonary and systemic complications. Three months of exposure to mild (1609 meters) and moderate (2438) altitude increased rates of hemolysis and right ventricular systolic pressures in mice with SCD when compared to healthy wild-type cohorts and SCD mice at sea level...
June 21, 2018: Journal of Physiology
Manoelle Kossorotoff, Mariane De Montalembert, Valentine Brousse, Dominique Lasne, Emmanuel Curis, David M Smadja, Romaric Lacroix, Sebastien Bertil, Elodie Masson, Isabelle Desguerre, Damien Bonnet, Pascale Gaussem
BACKGROUND/OBJECTIVES: Sickle cell disease (SCD) complications mostly result from vascular dysfunction, concerning systemic microvasculature and cerebral large vessels. The aim of this cohort study was to identify potential circulating biomarkers predictive for further vascular event occurrence in pediatric SCD. METHODS: We consecutively enrolled 108 children with SCD at steady state, aged 3-18 years old (median 9.8 years). Hematology, coagulation, hemolysis, endothelial, platelet and vascular activation parameters were recorded at inclusion...
June 21, 2018: Stem Cell Reviews
Desmond Aroke, Diego Nitcheu Tchouakam, Benjamin Momo Kadia, Simeon Pierre Choukem
Morbidity associated with iron deficiency anaemia in pregnancy is increased in the presence of sickle cell anaemia. Iron supplementation in pregnant sicklers in a bid to resolve iron deficiency anaemia is recommended only after laboratory confirmation of iron deficiency. However, the greatest burden of sickle cell disease is seen in low and middle income countries where equipment for measuring body iron indices are unavailable.Sickle cell anaemia is an inherited disorder of haemoglobin synthesis characterized by life-long severe haemolytic anaemia...
June 22, 2018: BMC Pregnancy and Childbirth
Mohsen Saleh ElAlfy, Amira Abdel Moneam Adly, Fatma Soliman ElSayed Ebeid, Deena Samir Eissa, Eman Abdel Rahman Ismail, Yasser Hassan Mohammed, Manar Elsayed Ahmed, Aya Sayed Saad
Sickle cell disease (SCD) is associated with alterations in immune phenotypes. CD4+ CD28null T lymphocytes have pro-inflammatory functions and are linked to vascular diseases. To assess the percentage of CD4+ CD28null T lymphocytes, natural killer cells (NK), and IFN-gamma levels, we compared 40 children and adolescents with SCD with 40 healthy controls and evaluated their relation to disease severity and response to therapy. Patients with SCD steady state were studied, focusing on history of frequent vaso-occlusive crisis, hydroxyurea therapy, and IFN-gamma levels...
June 20, 2018: Immunologic Research
Nicolas S Merle, Anne Grunenwald, Helena Rajaratnam, Viviane Gnemmi, Marie Frimat, Marie-Lucile Figueres, Samantha Knockaert, Sanah Bouzekri, Dominique Charue, Remi Noe, Tania Robe-Rybkine, Marie Le-Hoang, Nathan Brinkman, Thomas Gentinetta, Monika Edler, Sara Petrillo, Emanuela Tolosano, Sylvia Miescher, Sylvain Le Jeune, Pascal Houillier, Sophie Chauvet, Marion Rabant, Jordan D Dimitrov, Veronique Fremeaux-Bacchi, Olivier P Blanc-Brude, Lubka T Roumenina
In hemolytic diseases, such as sickle cell disease (SCD), intravascular hemolysis results in the release of hemoglobin, heme, and heme-loaded membrane microvesicles in the bloodstream. Intravascular hemolysis is thus associated with inflammation and organ injury. Complement system can be activated by heme in vitro. We investigated the mechanisms by which hemolysis and red blood cell (RBC) degradation products trigger complement activation in vivo. In kidney biopsies of SCD nephropathy patients and a mouse model with SCD, we detected tissue deposits of complement C3 and C5b-9...
June 21, 2018: JCI Insight
Heloísa Laís Rosario Dos Santos, Inessa da Silva Barbosa, Thaís Feitosa Leitão de Oliveira, Viviane Almeida Sarmento, Soraya Castro Trindade
Sickle-cell disease (SCD), which involves morphological changes to the red blood cells, is the most common hemoglobinopathy worldwide. This conformational change in erythrocytes affects multiple organs and systems, including the hard and soft tissues of the stomatognathic system. The objective of this study was to provide a description of the maxillomandibular positioning of patients using computed tomography in a case series of 40 patients with SCD. To define the facial profile of patients, 2-dimensional (2D) and 3-dimensional (3D) McNamara and Steiner cephalometric tracings were performed...
June 2018: Medicine (Baltimore)
Takuto Takahashi, Yusuke Okubo, Maria A Pereda, Atsuhiko Handa, Scott Miller
OBJECTIVES: Acute chest syndrome is the leading cause of death in children with sickle cell disease and is generally due to respiratory failure. Epidemiologic factors for a need for mechanical ventilation in children with acute chest syndrome require further clarification. DESIGN: Retrospective observational study. SETTING: Nationally representative pediatric inpatient records in the United States by using the Kids' Inpatient Database for the years 2003, 2006, 2009, and 2012...
June 19, 2018: Pediatric Critical Care Medicine
Samit Ghosh, Rimi Hazra, Chibueze A Ihunnah, Frances Weidert, Bethany Flage, Solomon F Ofori-Acquah
Acute chest syndrome (ACS) mortality in sickle cell disease (SCD) rises sharply in young adult patients and mechanism-based prophylaxis is lacking. In SCD, haem oxygenase-1 (HO-1) declines with age and ACS is associated with low HO-1. To test if enhanced HO-1 can reduce ACS mortality, young SCD mice were treated with D3T (3H-1,2-dithiole-3-thione), an activator of nuclear-factor erythroid 2 like 2, which controls HO-1 expression, for 3 months. Following haem-induced ACS, all vehicle-treated mice succumbed to severe lung injury, while D3T-treated mice had significantly improved survival...
June 19, 2018: British Journal of Haematology
Francesca Mullins, Shawn Ott, Nakia Mister, Jeffrey Travis
Sickle cell disorders are associated with increased risk of sickling and vaso-occlusive complications when undergoing cardiopulmonary bypass (CPB) surgery. Monitoring of certain parameters such as venous and arterial oxygen content, hematocrit, acid base homeostasis, and body temperature are required for a superior outcome. Furthermore, perioperative exchange transfusion has a positive effect on the outcome of surgery and on the survival of patients undergoing heart surgery. Avoiding intraoperative hypoxia and hypothermia, and minimizing hemoglobin S (HbS) and hemoglobin C (HbC) levels with exchange transfusion make bypass surgery relatively safe with enhanced outcomes in these cases...
June 2018: Journal of Extra-corporeal Technology
Rick Huisjes, Anna Bogdanova, Wouter W van Solinge, Raymond M Schiffelers, Lars Kaestner, Richard van Wijk
Deformability is an essential feature of blood cells (RBCs) that enables them to travel through even the smallest capillaries of the human body. Deformability is a function of (i) structural elements of cytoskeletal proteins, (ii) processes controlling intracellular ion and water handling and (iii) membrane surface-to-volume ratio. All these factors may be altered in various forms of hereditary hemolytic anemia, such as sickle cell disease, thalassemia, hereditary spherocytosis and hereditary xerocytosis. Although mutations are known as the primary causes of these congenital anemias, little is known about the resulting secondary processes that affect RBC deformability (such as secondary changes in RBC hydration, membrane protein phosphorylation, and RBC vesiculation)...
2018: Frontiers in Physiology
Mira P Patel, Vincent Siu, Abel Silva-Garcia, Qing Xu, Zhe Li, Donna Oksenberg
Introduction: Hemoglobin (Hb) is a critical molecule necessary for all vertebrates to maintain aerobic metabolism. Hb-oxygen (O2 ) affinity modifiers have been studied to address various diseases including sickle cell disease, hypoxemia, tumor hypoxia, and wound healing. However, drug development of exogenous Hb modifiers has been hindered by the lack of a technique to rapidly screen compounds for their ability to alter Hb-O2 affinity. We have developed a novel screening assay based upon the spectral changes observed during Hb deoxygenation and termed it the oxygen dissociation assay (ODA)...
2018: Drug Design, Development and Therapy
Mohamed Zubair Farook, Moji Awogbade, Karthik Somasundaram, Ines L H Reichert, Patrick L S Li
BACKGROUND: Sickle cell disease (SCD) is a multisystem disease, and the predominant articular manifestation is osteonecrosis (ON). Total hip arthroplasty (THA) is technically challenging, and the complication rates are high. In this retrospective study, we have analysed the outcome of THA in a cohort of patients with SCD at our institution. MATERIALS AND METHODS: We identified 34 THAs between 1999 and 2016 in 30 patients (mean age 37 years) from our SCD database...
June 15, 2018: International Orthopaedics
P Neira-Ibáñez, R Clemente-Tomás, L Manfreda-Domínguez, Á Olate-Pérez, R Escudero-Igualada, A Duch-Samper
Clinical case The case concerns a 10-year-old boy of African origin, who suffered a mild ocular trauma to the left eye. Upon examination, the best visual acuity was 0.2 using the Snellen scale, with a 1mm height hyphema, intraocular pressure (IOP) of 12mmHg on left eye, with an increase up to 20mmHg within 72h. With a positive test for sickle cell disease, it was decided to treat medically with transcorneal oxygen therapy. Clearing of the anterior chamber was achieved, with and improvement in the best visual acuity to 0...
June 12, 2018: Archivos de la Sociedad Española de Oftalmología
Sabrina Gmuca, Rui Xiao, Pamela F Weiss, David D Sherry, Andrea M Knight, Jeffrey S Gerber
Objective: Thirty percent of adults with fibromyalgia receive an opioid, but the prevalence of opioid prescribing in pediatric chronic musculoskeletal pain is unknown. The aims of this study were to determine the prevalence of and factors associated with opioid exposure and polypharmacy among children with chronic musculoskeletal pain. Methods: In this retrospective cohort study using health care claims data from 2000 to 2013, the index date was the first ICD-9 code 729...
June 13, 2018: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
Sarah L Reeves, Hannah K Jary, Jennifer P Gondhi, Mary Kleyn, Abram L Wagner, Kevin J Dombkowski
BACKGROUND: Children with sickle cell anemia and sickle cell trait are at an increased risk of invasive pneumococcal disease compared to children with normal hemoglobin. We assessed and compared pneumococcal vaccination status among these three groups. PROCEDURE: Children with sickle cell anemia and sickle cell trait were identified using Michigan newborn screening records (1997-2014); each child was matched to four children with normal hemoglobin based on age, Medicaid enrollment (at least 1 year from 2012-2014), race, and census tract...
June 15, 2018: Pediatric Blood & Cancer
Erdem Kucukal, Anton Ilich, Nigel S Key, Jane A Little, Umut A Gurkan
In sickle cell disease (SCD), 'disease severity' associates with increased RBC adhesion to quiescent endothelium, but the impact on activated endothelium is not known. Increased concentrations of free heme result from intravascular hemolysis in SCD. Heme is essential for aerobic metabolism, and plays an important role in numerous biological processes. Excess free heme induces reactive oxygen species generation and endothelial activation, which are associated with cardiovascular disorders including atherosclerosis, hypertension, and thrombosis...
June 15, 2018: American Journal of Hematology
Spiros L Blackburn, Peeyush T Kumar, Devin McBride, Hussein A Zeineddine, Jenna Leclerc, H Alex Choi, Pramod K Dash, James Grotta, Jaroslaw Aronowski, Jessica C Cardenas, Sylvain Doré
Survivors of cerebral aneurysm rupture are at risk for significant morbidity and neurological deficits. Much of this is related to the effects of blood in the subarachnoid space which induces an inflammatory cascade with numerous downstream consequences. Recent clinical trials have not been able to reduce the toxic effects of free hemoglobin or improve clinical outcome. One reason for this may be the inability to identify patients at high risk for neurologic decline. Recently, haptoglobin genotype has been identified as a pertinent factor in diabetes, sickle cell, and cardiovascular disease, with the Hp 2-2 genotype contributing to increased complications...
2018: Frontiers in Physiology
Carlos Cabal Mirabal, Adolfo Fernández García, Manuel Lores Guevara, Evelio González, Leonardo Oramas Díaz
The potentials of the magnetic resonance (MR) methods in the research of biomedical systems have been demonstrated during the 70 years of its existence. It is presented that the Cuban experience in quantitative magnetic resonance associated with molecular, preclinical and clinical studies of significant diseases and drugs development. MR "in vitro" and "in vivo" studies of sickle cell disease, the diabetic foot ulcer, the brain tumor response and the magnetic nano-particle pharmacokinetics, are presented as example...
2018: Applied Magnetic Resonance
Susan M Burke
No abstract text is available yet for this article.
June 11, 2018: Journal of Pediatric Nursing
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