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Sickle cell

Charikleia Kelaidi, Antonis Kattamis, Filia Apostolakou, Christos Poziopoulos, Christina Lazaropoulou, Polyxeni Delaporta, Ino Kanavaki, Ioannis Papassotiriou
BACKGROUND: Levels of the angiogenic cytokines Placental Growth Factor (PlGF) and soluble Fms-Like Tyrosine Kinase-1 (sFlt-1) and the angiogenic balance, expressed by sFlt-1/PlGF ratio, are perturbed in Sickle Cell Disease and iron overload, but they have not been evaluated in Non-Transfusion-Dependent Thalassemia (NTDT). PATIENTS AND METHODS: We measured levels of PlGF, sFlt-1 and vWF:antigen in patients with NTDT of beta thalassemia genotype, and correlated them with erythrocytic indices and markers of iron overload, inflammation and tissue hypoxia...
March 15, 2018: European Journal of Haematology
(no author information available yet)
No abstract text is available yet for this article.
March 15, 2018: Nature Reviews. Disease Primers
Gregory J Kato, Frédéric B Piel, Clarice D Reid, Marilyn H Gaston, Kwaku Ohene-Frempong, Lakshmanan Krishnamurti, Wally R Smith, Julie A Panepinto, David J Weatherall, Fernando F Costa, Elliott P Vichinsky
Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB, which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 and 400,000 neonates globally each year, the majority in sub-Saharan Africa. Haemoglobin molecules that include mutant sickle β-globin subunits can polymerize; erythrocytes that contain mostly haemoglobin polymers assume a sickled form and are prone to haemolysis. Other pathophysiological mechanisms that contribute to the SCD phenotype are vaso-occlusion and activation of the immune system...
March 15, 2018: Nature Reviews. Disease Primers
S O Edeki, O O Akanbi
The datasets contained in this article are simulated data with respect to Sickle Cell Anaemia (SCA) in order to examine the mathematical inheritance formation of the SCA disease. The simulation is done using Monte Carlos Simulation (MCS) Technique to complement the Physical Simulation Smith's Statistical (PSSS) package used as random number generator for birth simulation. One hundred and fifty-six (156) births for seven (7) generations were considered in the simulation alongside non-gestating reproductive females with fertile male adults while immigration and emigration are not permitted...
February 2018: Data in Brief
Syed Ibaad Ali, Rimsha Akhter, Ariba Khan
No abstract text is available yet for this article.
March 2018: JPMA. the Journal of the Pakistan Medical Association
Norita Hussein, Stephen F Weng, Joe Kai, Jos Kleijnen, Nadeem Qureshi
BACKGROUND: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting...
March 14, 2018: Cochrane Database of Systematic Reviews
Hitomi Hosoya, Jeffrey Levine, Peter Abt, David Henry, David L Porter, Saar Gill
Sickle-cell disease (SCD) leads to recurrent vaso-occlusive crises, chronic end-organ damage, and resultant physical, psychological, and social disabilities. Although hematopoietic stem-cell transplantation (HSCT) is potentially curative for SCD, this procedure is associated with well-recognized morbidity and mortality and thus is ideally offered only to patients at high risk of significant complications. However, it is difficult to identify patients at high risk before significant complications have occurred, and once patients experience significant organ damage, they are considered poor candidates for HSCT...
March 13, 2018: Blood Advances
Christine Berg, Allison King, Dorothy Farrar Edwards
Using descriptive case studies, this paper describes a short-term mentoring program using goal attainment scaling for young adults with sickle cell disease (SCD). Two participants received three and seven visits, respectively, before dropping out of the program with no significant change in goal attainment scores. Although the program supported meaningful individualized goals, repeated and cumulative effects of hospitalizations, sickle cell pain episodes, family health issues, unsafe location of residence, and transportation appeared to remain significant barriers for to achieve stated goals...
March 13, 2018: Occupational Therapy in Health Care
Heather Reagin, Etan Marks, Stephen Weis, Joseph Susa
We report a case in which a 43-year-old African American male with medical history of sickle cell disease (SCD) presented with a nonhealing ulcer. Biopsy revealed features of livedoid vasculopathy. Previously, livedoid vasculopathy had only been described in a patient with sickle cell trait, but never in a patient with SCD. Livedoid vasculopathy most commonly affects the distal lower extremities and is characterized by irregular, punched-out, painful ulcers that heal with stellate white scars of atrophie blanche...
February 28, 2018: American Journal of Dermatopathology
Sangeeta Chattoo
This paper engages critically with the global assemblage framing sickle cell and thalassaemia disorders as a 'global health crisis'; and the promise of genomics, largely DNA-based carrier/pre-conceptual screening, prenatal diagnosis with a view to terminations, deployed in framing a solution to these historically racialised spectrum of diseases as essentially preventable. Sickle cell and thalassaemia are recessively inherited, potentially life-threatening haemoglobin disorders with significant variation of severity, often needing life-long treatment...
April 2018: Anthropology & Medicine
Karin Fisher, Andrea M Laikin, Katianne M Howard Sharp, Catherine A Criddle, Tonya M Palermo, Cynthia W Karlson
Limited research is available on the relationship between objective sleep patterns and pain in children with SCD. Research in other chronic pain populations suggests that the effect of sleep disruption on pain may be stronger than the effect of pain on sleep that night. To examine the bi-directional relationship between objective sleep patterns and daily pain in a pediatric SCD sample. Participants were 30 African American children with SCD 8-18 years (13 ± 2.8 years; 66.7% female) with frequent pain...
March 12, 2018: Journal of Behavioral Medicine
Adekunle Emmanuel Alagbe, John Ayodele Olaniyi, Oladapo Wale Aworanti
Background and Objectives: Inflammatory markers that influence bone pain crisis (BPC) and other complications of sickle cell anaemia (SCA) are numerous and play various roles. This study determined the plasma levels of tumour necrosis factor (TNF) - α, interleukin - 8 (IL-8), and endothelin - 1 (ET-1) in adult SCA patients during BPC and in steady state. In addition, the plasma levels of these cytokines were correlated with the severity of BPC of the patients. Methods and Materials: Sixty adult SCA patients (30 during BPC and 30 during steady state) and 30 haemoglobin A controls were enrolled for this cross-sectional study...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Nafisatu Bello, Abubakar Tukur Dawakin Kudu, Azeezat Bolanle Adetokun, Dalha Wada Taura, Yusuf Dan'asabe Jobbi, Mustapha Umar, Ibrahim Yusuf
Background and Objectives: Bacterial infection in sickle cell anaemic patients is a major cause of mortality and requires proper treatment with appropriate antibiotics. However, continue defiant of these infections causing pathogens to many antibiotics and inadequate screening methods in overburden health care facilities such as our in Kano, Nigeria necessitates the conduct of this study. A research was therefore conducted to isolate, characterize and test for antimicrobial susceptibility of bacteraemia-causing pathogens from febrile children with and without sickle cell disease in Kano, Nigeria...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Isabela Cristina Cordeiro Farias, Taciana Furtado Mendonça-Belmont, Andreia Soares da Silva, Kleyton Palmeira do Ó, Felipe Ferreira, Fernanda Silva Medeiros, Luydson Richardson da Silva Vasconcelos, Marcos André Cavalcanti Bezerra, Aderson da Silva Araújo, Patricia Muniz Mendes Freire de Moura, Betânia Lucena Domingues Hatzlhofer, Ana Claudia Mendonça Dos Anjos, Maria do Socorro de Mendonça Cavalcanti
The SOD2 polymorphism Val16Ala T→C influences the antioxidative response. This study investigated the association of the SOD2 polymorphism and superoxide dismutase (SOD) activity with the vaso-occlusive crisis (VOC) and acute splenic sequestration (ASS) in children with sickle cell anemia (SCA). One hundred ninety-five children with SCA aged 1-9 years old were analyzed. The TC and CC genotypes were associated with lower SOD activity compared with the TT genotype (p=0.0321; p=0.0253, respectively). Furthermore, TC and CC were more frequent in patients with VOC or ASS (p=0...
2018: Mediterranean Journal of Hematology and Infectious Diseases
M Colinart-Thomas, V Noël, G Roques, S Gordes-Grosjean, M Abely, C Pluchart
Sickle cell disease, a hemoglobin disorder with autosomal recessive transmission, is one of the most common genetic diseases screened in France. Thanks to early management, 95% of sickle cell patients reach adulthood and require transition from pediatric care to adult care. Through a retrospective study of records from serious sickle cell patients over 17 years old, followed in the hematology-oncology pediatric unit of Reims University Hospital Center in France, we analyzed transition conditions, compared pediatric and adult management, and proposed a plan for transition care...
March 9, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Roxanne Labranche, Guillaume Gilbert, Milena Cerny, Kim-Nhien Vu, Denis Soulières, Damien Olivié, Jean-Sébastien Billiard, Takeshi Yokoo, An Tang
Iron overload is a systemic disorder and is either primary (genetic) or secondary (exogenous iron administration). Primary iron overload is most commonly associated with hereditary hemochromatosis and secondary iron overload with ineffective erythropoiesis (predominantly caused by β-thalassemia major and sickle cell disease) that requires long-term transfusion therapy, leading to transfusional hemosiderosis. Iron overload may lead to liver cirrhosis and hepatocellular carcinoma, in addition to cardiac and endocrine complications...
March 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Benjamin Zielonka, Alan R Cohen, Kim Smith-Whitley, Bhavya S Doshi
Although musculoskeletal pain in patients with sickle cell disease (SCD) is most frequently the result of vaso-occlusive episodes, clinicians often consider other etiologies including osteomyelitis, avascular necrosis, and trauma. In this study, we report the case of a young female with SCD with hip and back pain secondary to a nontraumatic iliopsoas periosteal hematoma with evidence of adjacent bone infarction. The pathophysiology, diagnostic considerations, and management of periosteal hematomas in SCD are reviewed...
March 12, 2018: Pediatric Blood & Cancer
Rima S Zahr, Prasanthi Chappa, Hong Yin, Lou A Brown, Kenneth I Ataga, David R Archer
Recent studies have demonstrated pleiotropic effects of statins in various mouse models of kidney disease. In this study, Townes humanized sickle cell mice were treated for 8 weeks with atorvastatin at a dose of 10 mg/kg/day starting at 10 weeks of age. Treatment with atorvastatin significantly reduced albuminuria, and improved both urine concentrating ability and glomerular filtration rate. Atorvastatin also decreased markers of kidney injury and endothelial activation, and ameliorated oxidant stress in renal tissues and peripheral macrophages...
March 12, 2018: British Journal of Haematology
Jun Li, Hui-Chen Hsu, John D Mountz, John G Allen
Fucosylation is a biological process broadly observed in vertebrates, invertebrates, plants, bacteria, and fungi. Fucose moieties on cell-surface glycans are increasingly recognized as critical to many cell-cell interaction and signaling processes. One of the characteristic roles of fucose is its regulation of selectin-dependent leukocyte adhesion that has been well studied over the last two decades. Recent studies of fucose in immune cell development and function regulation have significantly expanded the contemporary understanding of fucosylation...
February 24, 2018: Cell Chemical Biology
Daniel Shriner, Charles N Rotimi
Five classical designations of sickle haplotypes are made on the basis of the presence or absence of restriction sites and are named after the ethno-linguistic groups or geographic regions from which the individuals with sickle cell anemia originated. Each haplotype is thought to represent an independent occurrence of the sickle mutation rs334 (c.20A>T [p.Glu7Val] in HBB). We investigated the origins of the sickle mutation by using whole-genome-sequence data. We identified 156 carriers from the 1000 Genomes Project, the African Genome Variation Project, and Qatar...
March 7, 2018: American Journal of Human Genetics
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