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sickle cell anaemia

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https://www.readbyqxmd.com/read/28340403/micro-and-macrovascular-function-in-children-with-sickle-cell-anaemia-and-sickle-cell-haemoglobin-c-disease
#1
Berenike Möckesch, Keyne Charlot, Stéphane Jumet, Marc Romana, Lydia Divialle-Doumdo, Marie-Dominique Hardy-Dessources, Marie Petras, Benoît Tressieres, Vanessa Tarer, Olivier Hue, Maryse Etienne-Julan, Philippe Connes, Sophie Antoine-Jonville
It is unclear whether vascular function is affected similarly in children with sickle cell anaemia (SS) and children with sickle haemoglobin C (SC) disease. Therefore, we compared micro and macrovascular functions in healthy (AA) children, children with SS and SC disease, and assessed their association with physical activity. Participants (24 SS, 22 SC and 16 AA), were compared in terms of 1) thermal hyperaemic response (finger pad warming to 42°C) measured by Laser Doppler techniques, 2) arterial stiffness determined by pulse wave velocity, 3) daily energy expenditure related to moderate and intense physical activities estimated by questionnaire and 4) fitness level, evaluated by the six-minute walk test...
February 4, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28293401/alloimmunization-in-patients-with-sickle-cell-disease-and-thalassemia-experience-of-a-single-centre-in-oman
#2
Salam Alkindi, Saba AlMahrooqi, Sumaiya AlHinai, Ali AlMarhoobi, Saif Al-Hosni, Shahina Daar, Naglaa Fawaz, Anil Pathare
BACKGROUND: Blood transfusion is an integral part of the supportive care for patients with sickle cell disease (SCD) and thalassaemia. The hazard of red cell alloimmunization, however, is one of the main complications of this therapy. OBJECTIVES: The aim of this study was to evaluate the prevalence of red cell alloimmunization in Omani patients with sickle cell anaemia and thalassemia. METHODS: This study included 262 patients whose historical transfusion records were available...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28270033/influence-of-serum-25-hydroxyvitamin-d-on-the-rate-of-pain-episodes-in-nigerian-children-with-sickle-cell-anaemia
#3
Samuel Ademola Adegoke, Oyeku Akibu Oyelami, Adekunle Adekile, Maria Stella Figueiredo
BACKGROUND: In sickle cell disease (SCD), symptoms of vitamin D deficiency (VDD) and chronic pain can overlap. AIM: To examine the relationship between serum vitamin D levels and the frequency of acute pain episodes. METHODS: In this cross-sectional study, serum 25-hydroxyvitamin D (25-OHD) was assayed by high-performance liquid chromatography, and its influence on the number of significant pain episodes was examined by bivariate and logistic regression analyses...
March 8, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28248321/unclogging-sickle-cell-anaemia
#4
Hojun Li, Harvey Lodish
No abstract text is available yet for this article.
March 1, 2017: Nature Reviews. Molecular Cell Biology
https://www.readbyqxmd.com/read/28238414/histological-features-of-bone-marrow-in-paediatric-patients-during-the-asymptomatic-phase-of-early-stage-black-african-sickle-cell-anaemia
#5
Alessandro Mauriello, Erica Giacobbi, Andrea Saggini, Antonella Isgrò, Simone Facchetti, Lucia Anemona
Bone marrow histological features of sickle cell anaemia (SCA) patients during early stages and in the asymptomatic phase of the disease appear an interesting area of study, representing early-stage consequences of SCA with a close relation to its pathophysiology. Unfortunately, this field of research has never been specifically addressed before. Bone marrow biopsies from 26 consecutive Black African SCA patients (M:F=1.6:1; age 2-17 years), free of clinical signs of chronic bone marrow damage, with no recent history of symptomatic vaso-occlusive episodes, and waiting for haematopoietic stem cell transplantation (HSCT), underwent morphological, immunohistochemical and electron microscopy evaluation...
February 23, 2017: Pathology
https://www.readbyqxmd.com/read/28218952/glomerular-hyperfiltration-is-strongly-correlated-with-age-in-congolese-children-with-sickle-cell-anaemia
#6
Michel Ntetani Aloni, René Makuala Ngiyulu, Pépé Mfutu Ekulu, Fiston IkwaNdol Mbutiwi, Jean Robert Makulo, Jean Lambert Gini-Ehungu, Nazaire Mangani Nseka, François Bompeka Lepira
AIM: Glomerular hyperfiltration is an early marker of sickle cell nephropathy and can lead to microalbuminuria and renal failure. Our aim was to identify the associated risk factors, as these could be of preventative importance. METHODS: We recruited 150 children with sickle cell anaemia (SCA), aged two to 18 years and living in Kinshasa, the Democratic Republic of Congo. Hyperfiltration and microalbuminuria were defined as an estimated glomerular filtration rate of less than 140 mL/min/1...
February 20, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28208888/haemoglobinopathies-and-%C3%AE-thalassaemia-among-the-tribals-working-in-the-tea-gardens-of-assam-india
#7
Anju Barhai Teli, Rumi Deori, Sidhartha Protim Saikia
INTRODUCTION: Prevalence of haemoglobinopathies and β-thalassaemia are very high in India but information about its status among the tribals working in the tea gardens of Assam is very less. AIM: The present study was carried out to determine the prevalence of haemoglobinopathies and β-thalassaemia among the tribals working in the tea gardens of Assam. MATERIALS AND METHODS: A total 1204 samples from the tribals working in tea gardens of Assam were analysed for both Complete Blood Count (CBC) and High Pressure Liquid Chromatography (HPLC) for detection of haemoglobinopathies and β-thalassaemia...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28159390/sickle-cell-disease
#8
REVIEW
Russell E Ware, Mariane de Montalembert, Léon Tshilolo, Miguel R Abboud
Sickle cell disease is a common and life-threatening haematological disorder that affects millions of people worldwide. Abnormal sickle-shaped erythrocytes disrupt blood flow in small vessels, and this vaso-occlusion leads to distal tissue ischaemia and inflammation, with symptoms defining the acute painful sickle-cell crisis. Repeated sickling and ongoing haemolytic anaemia, even when subclinical, lead to parenchymal injury and chronic organ damage, causing substantial morbidity and early mortality. Currently available treatments are limited to transfusions and hydroxycarbamide, although stem cell transplantation might be a potentially curative therapy...
January 31, 2017: Lancet
https://www.readbyqxmd.com/read/28139477/determination-of-toral-antioxidant-capacity-of-saliva-in-sickle-cell-anemic-patients-a-cross-sectional-study
#9
Sudhindra Baliga, Minal Chaudhary, Sham S Bhat, Poonam Bhatiya, Nilima Thosar, Pooja Bhansali
BACKGROUND: Sickle cell anemia is a congenital hemoglobinopathy characterized by deformed red blood cells. Oxidative stress plays an important role in the pathophysiology of sickle cell anaemia as it destroys free radicals, and thereby depleting the protective mechanisms such as antioxidants in serum. These antioxidants are essential to protect against harmful oxidation-reduction reactions preventing oxidative damage to the cells. AIM: To evaluate and compare the Total Antioxidant Capacity (TAC) of serum and saliva in sickle cell anemia patients...
January 2017: Journal of the Indian Society of Pedodontics and Preventive Dentistry
https://www.readbyqxmd.com/read/28109314/sickle-cell-disease-and-pregnancy-outcomes-a-study-of-the-community-based-hospital-in-a-tribal-block-of-gujarat-india
#10
Gayatri Desai, Ankit Anand, Pankaj Shah, Shobha Shah, Kapilkumar Dave, Hardik Bhatt, Shrey Desai, Dhiren Modi
BACKGROUND: Sickle cell disease (SCD) is a hereditary blood disorder prevalent in tribal regions of India. SCD can increase complications during pregnancy and in turn negatively influence pregnancy outcomes. This study reports the analysis of tribal maternal admissions in the community-based hospital of SEWA Rural (Kasturba Maternity Hospital) in Jhagadia block, Gujarat. The objective of the study is to compare the pregnancy outcomes among SCD, sickle cell trait and non-SCD admissions...
January 21, 2017: Journal of Health, Population, and Nutrition
https://www.readbyqxmd.com/read/28105733/vitamin-d-supplementation-for-sickle-cell-disease
#11
REVIEW
Htoo Htoo Kyaw Soe, Adinegara Bl Abas, Nan Nitra Than, Han Ni, Jaspal Singh, Abdul Razzak Bin Mohd Said, Ifeyinwa Osunkwo
BACKGROUND: Sickle cell disease is a genetic chronic haemolytic and pro-inflammatory disorder. The clinical manifestations of sickle cell disease result from the presence of mutations on the beta globin genes that generate an abnormal haemoglobin product (called haemoglobin S) within the red blood cell. Sickle cell disease can lead to many complications such as acute chest syndrome, stroke, acute and chronic bone complications (including painful vaso-occlusive crisis, osteomyelitis, osteonecrosis and osteoporosis)...
January 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28105246/hepatobiliary-ultrasonographic-abnormalities-in-adult-patients-with-sickle-cell-anaemia-in-steady-state-in-ile-ife-nigeria
#12
Oluwatosin O Oguntoye, Dennis A Ndububa, Musah Yusuf, Rahman A Bolarinwa, Oluwagbemiga O Ayoola
BACKGROUND: Sickle cell anaemia (SCA) is associated with structural manifestations in the hepatobiliary axis. This study aimed to investigate the hepatobiliary ultrasonographic abnormalities in adult patients with sickle cell anaemia in steady state attending the Haematology clinic of a federal tertiary health institution in Ile-Ife, Nigeria. MATERIAL/METHODS: Basic demographic data as well as right upper abdominal quadrant ultrasonography of 50 consecutive sickle cell anaemia patients were compared with those of 50 age- and sex-matched subjects with HbAA as controls...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28100178/a-retinopathy-in-young-patient-with-co-inheritance-of-heterozygous-alpha%C3%A2-%C3%A2-thalassemia-and-sickle-trait-a-case-report
#13
Zohra Ouzzif, Aissam El Maataoui, Zeinab Traore, Asmae Biaz, Samira El Machtani, Abdellah Dami, Sanae Bouhsain, Nezha Messaoudi, Fatiha Benchrifa
BACKGROUND: The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. CASE PRESENTATION: A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygous alpha thalassemia. His mother has Sickle cell anaemia (Hb SS) and his father is a carrier of heterozygous alpha-thalassemia status that it was unknown before...
January 18, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28097791/alpha-thalassaemia-promotes-frequent-vaso-occlusive-crises-in-children-with-sickle-cell-anaemia-through-haemorheological-changes
#14
Céline Renoux, Philippe Connes, Elie Nader, Sarah Skinner, Camille Faes, Marie Petras, Yves Bertrand, Nathalie Garnier, Daniela Cuzzubbo, Lydia Divialle-Doumdo, Kamila Kebaïli, Cécile Renard, Alexandra Gauthier, Maryse Etienne-Julan, Giovanna Cannas, Cyril Martin, Marie-Dominique Hardy-Dessources, Vincent Pialoux, Marc Romana, Philippe Joly
BACKGROUND: Sickle cell anaemia (SCA) is a severe hereditary haemoglobinopathy characterised by haemorheological abnormalities, which play a role in the occurrence of several acute and chronic clinical complications. While β(S) -haplotypes and alpha-thalassaemia modulate SCA clinical severity, their effects on blood rheology have been incompletely described. The aim of this study was to test the effects of these genetic modifiers on the haemorheological properties and clinical complication of children with SCA...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28094851/blood-transfusion-for-preventing-primary-and-secondary-stroke-in-people-with-sickle-cell-disease
#15
REVIEW
Lise J Estcourt, Patricia M Fortin, Sally Hopewell, Marialena Trivella, Winfred C Wang
BACKROUND: Sickle cell disease is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. Sickle cell disease can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Stroke affects around 10% of children with sickle cell anaemia (HbSS). Chronic blood transfusions may reduce the risk of vaso-occlusion and stroke by diluting the proportion of sickled cells in the circulation...
January 17, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28005272/prophylactic-versus-selective-blood-transfusion-for-sickle-cell-disease-in-pregnancy
#16
REVIEW
Babasola O Okusanya, Olufemi T Oladapo
BACKGROUND: Pregnant women with sickle cell disease (HbSS, HbSC and HbSβThal) may require blood transfusion to prevent severe anaemia or to manage potential medical complications. Preventive blood transfusion in the absence of complications starting from the early weeks of pregnancy or blood transfusion only for medical or obstetric indications have been used as management policies. There is currently no consensus on the blood transfusion policy that guarantees optimal clinical benefits with minimal risks for such women and their babies...
December 22, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27994894/ischemic-monomeric-neuropathy-in-a-woman-with-sickle-cell-anaemia
#17
Alexandra Agapidou, Laura Aiken, Lisa Linpower, Dimitris A Tsitsikas
Sickle cell disease is an inherited haemoglobinopathy that can affect multiple organs and systems. The most common neurological complication in sickle cell disease is stroke and silent cerebral infarcts. Peripheral nervous system involvement has been described but is exceedingly rare. Herein, we describe the case of a young woman who presented with acute flaccid paralysis and sensory loss of the left lower extremity in the context of a painful vasoocclusive crisis which resolved rapidly after receiving an emergency automated red cell exchange transfusion...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27984639/exacerbation-of-oxidative-stress-during-sickle-vaso-occlusive-crisis-is-associated-with-decreased-anti-band-3-autoantibodies-rate-and-increased-red-blood-cell-derived-microparticle-level-a-prospective-study
#18
Régine Hierso, Nathalie Lemonne, Rinaldo Villaescusa, Marie-Laure Lalanne-Mistrih, Keyne Charlot, Maryse Etienne-Julan, Benoit Tressières, Yann Lamarre, Vanessa Tarer, Yohann Garnier, Ada Arce Hernandez, Serge Ferracci, Philippe Connes, Marc Romana, Marie-Dominique Hardy-Dessources
Painful vaso-occlusive crisis, a hallmark of sickle cell anaemia, results from complex, incompletely understood mechanisms. Red blood cell (RBC) damage caused by continuous endogenous and exogenous oxidative stress may precipitate the occurrence of vaso-occlusive crises. In order to gain insight into the relevance of oxidative stress in vaso-occlusive crisis occurrence, we prospectively compared the expression levels of various oxidative markers in 32 adults with sickle cell anaemia during vaso-occlusive crisis and steady-state conditions...
March 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/27984631/interim-assessment-of-liver-damage-in-patients-with-sickle-cell-disease-using-new-non-invasive-techniques
#19
Emma Drasar, Emer Fitzpatrick, Kate Gardner, Moji Awogbade, Anil Dhawan, Adrian Bomford, Abid Suddle, Swee L Thein
We explored transient elastography (TE) and enhanced liver fibrosis (ELF(™) ) score with standard markers of liver function to assess liver damage in 193 well patients with sickle cell disease (SCD). Patients with HbSS or HbSβ(0) thalassaemia (sickle cell anaemia, SCA; N = 134), had significantly higher TE results and ELF scores than those with HbSC (N = 49) disease (TE, 6·8 vs. 5·3, P < 0·0001 and ELF, 9·2 vs. 8·6 P < 0·0001). In SCA patients, TE and ELF correlated significantly with age and all serum liver function tests (LFTs)...
February 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/27929203/real-time-dose-adjustment-using-point-of-care-platelet-reactivity-testing-in-a-double-blind-study-of-prasugrel-in-children-with-sickle-cell-anaemia
#20
Joseph A Jakubowski, Carolyn C Hoppe, Chunmei Zhou, Brendan E Smith, Patricia B Brown, Lori E Heath, Baba Inusa, David C Rees, David S Small, Neehar Gupta, Suqin Yao, Matthew Heeney, Julie Kanter
Patients with sickle cell anaemia (SCA) have vaso-occlusive crises resulting from occlusive hypoxic-ischaemic injury. Prasugrel inhibits platelet activation and aggregation involved in SCA pathophysiology. Determining Effects of Platelet Inhibition on Vaso-Occlusive Events (DOVE) was a phase 3, double-blind, randomised, placebo-controlled trial assessing prasugrel efficacy. DOVE sought to bring patients' P2Y12 reaction unit (PRU) value within a targeted range via prasugrel dose adjustments using encrypted VerifyNow P2Y12(®) (VN-P2Y12) point-of-care testing and an interactive voice-response system (IVRS)...
December 8, 2016: Thrombosis and Haemostasis
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