keyword
MENU ▼
Read by QxMD icon Read
search

sickle cell anaemia

keyword
https://www.readbyqxmd.com/read/29325430/rapid-and-sensitive-assessment-of-globin-chains-for-gene-and-cell-therapy-of-haemoglobinopathies
#1
Constantinos Christos Loucari, Petros Patsali, Thamar B van Dijk, Coralea Stephanou, Panayiota Papasavva, Maria Zanti, Ryo Kurita, Yukio Nakamura, Soteroulla Christou, Maria Sitarou, Sjaak Philipsen, Carsten Werner Lederer, Marina Kleanthous
The β-haemoglobinopathies sickle cell anaemia and β-thalassaemia are the focus of many gene-therapy studies. A key disease parameter is the abundance of globin chains, because it indicates the level of anaemia, likely toxicity of excess or aberrant globins, and therapeutic potential of induced or exogenous β-like globins. Reversed-phase high-performance liquid chromatography (HPLC) allows versatile and inexpensive globin quantification, but commonly applied protocols suffer either from long run times, high sample requirements or inability to separate murine from human β-globin chains...
January 12, 2018: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/29303133/relationship-between-zinc-levels-and-anthropometric-indices-among-school-aged-female-children-with-sickle-cell-anemia-in-enugu-nigeria
#2
V O Onukwuli, A N Ikefuna, A R Nwokocha, I J Emodi, C B Eke
BACKGROUND: Sickle cell anaemia is one of the most common inherited disorders globally. Some affected children have retardation of physical growth which is also seen in those with zinc deficiency. OBJECTIVE: To assess the relationship between zinc levels and anthropometric indices of SCA children. METHODS: A cross- sectional, case-control study on young females aged 6-18 years at the UNTH, Enugu. Relevant clinical data as well as 24 hour dietary recall were collected...
November 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29225982/sarcomatoid-renal-cell-carcinoma-in-an-adolescent-with-sickle-cell-anaemia
#3
H R Ahmad, J A Faruk, M A Bugaje, A Solomon, M O A Samaila, R M Akuse
Malignancies have been reported to occur in people with sickle cell disease. Renal medullary carcinoma (RMC), also tagged seventh sickle cell nephropathy, is an aggressive cancer seen almost exclusively in people with sickle cell disease with more than 160 cases reported worldwide, but only few cases were reported in patients with sickle cell anaemia (HBSS) and from Nigeria. Sarcomatoid renal cell carcinoma is a renal tumour of any histologic variant containing foci of high-grade malignant spindle cells. We report an adolescent girl with sickle cell anaemia (HBSS) who presented with left renal tumour, histology of which confirmed a diagnosis of sarcomatoid renal cell carcinoma (sRCC)...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/29205277/clinical-and-genetic-factors-are-associated-with-pain-and-hospitalisation-rates-in-sickle-cell-anaemia-in-cameroon
#4
Ambroise Wonkam, Khuthala Mnika, Valentina J Ngo Bitoungui, Bernard Chetcha Chemegni, Emile R Chimusa, Collet Dandara, Andre P Kengne
We aimed to investigate the clinical and genetic predictors of painful vaso-occlusive crises (VOC) in sickle cell disease (SCD) in Cameroon. Socio-demographics, clinical variables/events and haematological indices were acquired. Genotyping was performed for 40 variants in 17 pain-related genes, three fetal haemoglobin (HbF)-promoting loci, two kidney dysfunctions-related genes, and HBA1/HBA2 genes. Statistical models using regression frameworks were performed in R® . A total of 436 hydoxycarbamide- and opioid-naïve patients were studied; median age was 16 years...
December 3, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29187592/heterogeneity-of-respiratory-disease-in-children-and-young-adults-with-sickle-cell-disease
#5
Alan Lunt, Lucy Mortimer, David Rees, Sue Height, Swee Lay Thein, Anne Greenough
To detect and characterise different phenotypes of respiratory disease in children and young adults with sickle cell disease (SCD), 11 lung function and haematological biomarkers were analysed using k-means cluster analysis in a cohort of 114 subjects with SCD aged between 5 and 27 years. Three clusters were detected: cluster 1 had elevated pulmonary capillary blood volume, mixed obstructive/restrictive lung disease, hypoxia and moderately severe anaemia; cluster 2 were older patients with restrictive lung disease; and cluster 3 were younger patients with obstructive lung disease, elevated serum lactate dehydrogenase and bronchodilator reversibility...
November 29, 2017: Thorax
https://www.readbyqxmd.com/read/29181140/foetal-haemoglobin-and-disease-severity-in-nigerian-children-with-sickle-cell-anaemia
#6
Oluwagbemiga O Adeodu, Morenike A Akinlosotu, Samuel A Adegoke, Saheed B A Oseni
Background: Foetal haemoglobin (HbF) is a major modifying factor influencing sickle cell disease (SCD) severity. Despite this, HbF estimation is not routinely done in Nigeria. The relationship between HbF and SCD severity among affected children is also poorly studied. Methods: In this descriptive cross-sectional study, we determined the relationship between steady state HbF levels and disease severity of Nigerian children aged 1 - 15 years with homozygous SCD. For each child, the socio-demographic characteristics and SCD clinical severity were determined...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29114966/a-cross-sectional-clinic-based-study-exploring-whether-variants-within-the-glutathione-s-transferase-haptoglobin-and-uridine-5-diphosphoglucuronosyl-transferase-1a1-genes-are-associated-with-inter-individual-phenotypic-variation-in-sickle-cell-anaemia-in-jamaica
#7
Sharon Howell, Kwesi Marshall, Marvin Reid, Norma McFarlane-Anderson, Colin McKenzie
OBJECTIVES: To explore putative associations between specific variants in either the glutathione S-transferase (GST), haptoglobin (HP), or uridine 5'-diphospho-glucuronosyltransferase 1A1 (UGT1A1) genes and clinically important phenotypes in sickle cell anaemia (HbSS). METHODS: Three hundred and seventy-one HbSS participants were recruited from the Sickle Cell Clinic of the Sickle Cell Unit at the University of the West Indies, Kingston, Jamaica. Markers within four GST superfamily genes, the HP gene, and the UGT1A1 gene were analyzed using PCR-based assays...
November 7, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29099347/the-morbidity-pattern-of-children-with-sickle-cell-disorders-admitted-to-the-queen-elizabeth-hospital-barbados-2009-2013
#8
D Grannum, Paula M Lashley
A retrospective study was conducted by examining all the medical files of all the children with sickle cell anaemia (Hb SS) admitted from 1 January 2009 to 31 December 2013. A total of 220 admission notes (59 patients aged 5 months-16 years) were analysed. Of these, 53.2% were boys; 85.8% of the patients had Hb SS. The most common reason for admission was vaso-occlusive crisis. Blood transfusions were used in 39.7% of admissions There were no deaths during the study period. We note the number of sickle cell-related admissions and morbidity has increased, along with an increase in the number of blood transfusions...
January 1, 2017: Tropical Doctor
https://www.readbyqxmd.com/read/29021902/significantly-elevated-foetal-haemoglobin-levels-in-individuals-with-glucose-6-phosphate-dehydrogenase-disease-and-or-sickle-cell-trait-a-cross-sectional-study-in-cape-coast-ghana
#9
Patrick Adu, Essel K M Bashirudeen, Florence Haruna, Edward Morkporkpor Adela, Richard K D Ephraim
BACKGROUND: Previously published data have demonstrated that sickle red blood cells produce twice as much reactive oxygen species (ROS) suggesting that co-inheritance of sickle cell disease (SCD) and glucose 6-phosphate dehydrogenase (G6PD) enzymopathy could lead to more severe anaemia during sickling crises. Elevated foetal haemoglobin (Hb F) levels have been shown to have positive modulatory effects on sickling crises and disease outcomes. This study sought to assess how inheritance of G6PD enzymopathy affects the level of Hb F and haemoglobin concentration in adults in steady state...
2017: BMC Hematology
https://www.readbyqxmd.com/read/29019038/utilisation-and-safety-of-deferasirox-results-from-an-observational-cohort-study-in-england
#10
Vicki Osborne, Miranda Davies, Deborah Layton, Saad A W Shakir
INTRODUCTION: Deferasirox (EXJADE(®), Novartis, UK) is an oral iron-chelating agent primarily used to reduce chronic iron overload in patients receiving blood transfusions for various chronic anaemias and some non-transfusion dependant anaemias. OBJECTIVE: The aim of this study was to examine the utilisation and safety of deferasirox used in general practice in England. METHOD: A single exposure observational cohort study design was used...
October 10, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28988427/hydroxyurea-therapy-in-uk-children-with-sickle-cell-anaemia-a-single-centre-experience
#11
Kate Phillips, Laura Healy, Louise Smith, Russell Keenan
INTRODUCTION: Despite the demonstrated efficacy of hydroxyurea therapy, children with sickle cell anaemia in the UK are preferentially managed with supportive care or transfusion. Hydroxyurea is reserved for children with severe disease phenotype. This is in contrast to North America and other countries where hydroxyurea is widely used for children of all clinical phenotypes. The conservative UK practice may in part be due to concerns about toxicity, in particular marrow suppression with high doses, and growth in children...
October 8, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28969108/evaluation-of-serum-zinc-and-antioxidant-vitamins-in-adolescent-homozygous-sickle-cell-patients-in-wardha-district-of-central-india
#12
Rina Raibhan Wasnik, Nilkanth Ramji Akarte
INTRODUCTION: Sickle cell anaemia is a condition characterized by haemolytic and vaso-occlusive crisis. Previous studies in different part of the world have reported deficiency of zinc, vitamin C and E but the role of their supplementation in sickle cell disease remains question. Nutritional factors may contribute to clinical manifestation in rural population of developing countries specially in adolescent age group. Thus, the present study was designed in rural population of Wardha district of Maharashtra in adolescent sickle cell homozygous patients in view to evaluate serum zinc and antioxidant vitamins C and E...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28951650/atypical-osteomyelitis-and-concurrent-septic-arthritis-due-to-salmonella-in-immunocompetent-children
#13
Balasubramaniam Balakumar, Sangeet Gangadharan, Nithya Ponmudi, Satish Kumar, John Jude Prakash, Thomas Palocaren
OBJECTIVE: Salmonella osteomyelitis in immunocompromised individuals with sickle cell anaemia is well documented. Its occurrence in immunocompetent children is rare. METHODS: All pus culture positive cases of salmonella typhi between the period 2009 to 2014 were reviewed and only those children without sickle cell disease or trait were considered further. RESULTS: Eighty five patients had positive cultures. Of these only three children had culture positive Salmonella septic arthritis in the absence of sickle cell disease...
July 2017: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28922657/methods-employed-in-cytofluorometric-assessment-of-eryptosis-the-suicidal-erythrocyte-death
#14
REVIEW
Mohamed Jemaà, Myriam Fezai, Rosi Bissinger, Florian Lang
Suicidal erythrocyte death or eryptosis contributes to or even accounts for anemia in a wide variety of clinical conditions, such as iron deficiency, dehydration, hyperphosphatemia, vitamin D excess, chronic kidney disease (CKD), hemolytic-uremic syndrome, diabetes, hepatic failure, malignancy, arteriitis, sepsis, fever, malaria, sickle-cell disease, beta-thalassemia, Hb-C and G6PD-deficiency, Wilsons disease, as well as advanced age. Moreover, eryptosis is triggered by a myriad of xenobiotics and endogenous substances including cytotoxic drugs and uremic toxins...
2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28912951/the-frequency-and-severity-of-epistaxis-in-children-with-sickle-cell-anaemia-in-eastern-uganda-a-case-control-study
#15
Amina Nardo-Marino, Thomas N Williams, Peter Olupot-Olupot
BACKGROUND: There are a paucity of data on epistaxis as it pertains to sickle cell anaemia. Some case studies suggest epistaxis to be a significant complication in patients with sickle cell anaemia in sub-Saharan Africa; however, no robust studies have sought to establish the epidemiology or pathophysiology of this phenomenon. METHODS: We conducted a case-control study with the aim of investigating the importance of epistaxis among children presenting with sickle cell anaemia at the Mbale Regional Referral Hospital in eastern Uganda...
2017: BMC Hematology
https://www.readbyqxmd.com/read/28910308/pulmonary-hypertension-among-5-to-18-year-old-children-with-sickle-cell-anaemia-in-nigeria
#16
Ogochukwu J Sokunbi, Ekanem N Ekure, Edamisan O Temiye, Roosevelt Anyanwu, Christy A N Okoromah
BACKGROUND: Pulmonary hypertension (PHT) is a significant cause of mortality in patients with sickle cell disease (SCD). Few studies on PHT in SCD have been carried out in children. This study aimed to estimate the prevalence of PHT in children with sickle cell anaemia (SCA) and determine its clinical and laboratory correlates. METHODS: In this cross sectional study, evaluation involved obtaining bio-data, history and physical examination findings in 175 SCA subjects with haemoglobin genotype SS aged 5 to 18 years and 175 age and sex matched controls with haemoglobin genotype AA...
2017: PloS One
https://www.readbyqxmd.com/read/28894559/pattern-of-cerebral-blood-flow-velocity-using-transcranial-doppler-ultrasonography-in-children-with-sickle-cell-disorder-in-lagos-state-nigeria
#17
Motunrayo Oluwabukola Adekunle, Adeola Barakat Animasahun, Ijeoma Nnenna Diaku-Akinwumi, Olisamedua Fidelis Njokanma
Cerebrovascular accident (CVA) is a common, devastating neurological complication of sickle cell disorder (SCD) with a high recurrent and mortality rate. The Stroke Prevention Trial in Sickle Cell Anaemia study (STOP) recommends routine screening with transcranial Doppler ultrasonography in children aged two to sixteen years with SCD. The present study assessed cerebral blood flow velocities of children with SCD in accordance with the recommendation of routine screening by the STOP study. METHODS: Transcranial Doppler ultrasonography was done for children with SCD that attended Sickle Cell Foundation, Nigeria between July and November 2015...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28881103/hla-polymorphisms-and-risk-of-red-blood-cell-alloimmunisation-in-polytransfused-patients-with-sickle-cell-anaemia
#18
C Rodrigues, A M Sell, G A S Guelsin, T T Higa, S Pagliarini E Silva, L C Macedo, E Â Sippert, J B de Alencar, Â Zanette, C R L Acorsi, L Castilho, J E L Visentainer
BACKGROUND: Red blood cell (RBC) alloimmunisation is an event that may occur due to factors such as numerous blood transfusions, age, gender and genetic factors such as human leukocyte antigen (HLA). AIMS/OBJECTIVES: The aim of the present study was to investigate the possibility of alloimmunisation to red blood cell group antigens associated with the HLA of individuals and to relate alloimmunisation to risk factors. METHODS: A total of 172 polytransfused patients with sickle cell anaemia (SCA) (44 alloimmunised, 128 non-alloimmunised) participated in this study...
September 7, 2017: Transfusion Medicine
https://www.readbyqxmd.com/read/28880374/skeletal-and-myocardial-microvascular-blood-flow-in-hydroxycarbamide-treated-patients-with-sickle-cell-disease
#19
Vandana Sachdev, Stanislav Sidenko, Melinda D Wu, Caterina P Minniti, Hwaida Hannoush, Cynthia L Brenneman, Myron A Waclawiw, Andrew E Arai, Alan N Schechter, Gregory J Kato, Jonathan R Lindner
In sickle cell disease (SCD), abnormal microvascular function combined with chronic anaemia predisposes patients to perfusion-demand mismatch. We hypothesized that skeletal muscle and myocardial perfusion, normalized to the degree of anaemia, is reduced at basal-state compared to controls, and that this defect is ameliorated by hydroxycarbamide (HC; also termed hydroxyurea) therapy. Twenty-one SCD patients, of whom 15 were treated with HC, and 27 controls underwent contrast-enhanced ultrasound (CEU) perfusion imaging of the forearm as well as the myocardium...
November 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28833998/association-of-sickle-cell-haemoglobinopathies-with-dental-and-jaw-bone-abnormalities
#20
Sfc Souza, Hlcc de Carvalho, Cps Costa, Ebaf Thomaz
OBJECTIVE: To estimate the association between sickle cell anaemia and trait with dental and jaw bone abnormalities. SUBJECTS AND METHODS: Subjects (n = 369) were allocated to three groups: sickle cell anaemia, trait and control. Dental shape, number, size and position and changes in pulp chamber, root and periapex were analysed by intra-oral periapical radiographs. Integrity of lamina dura, quality of cancellous bone and bone trabeculation were also evaluated...
August 20, 2017: Oral Diseases
keyword
keyword
94386
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"