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sickle cell trait

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https://www.readbyqxmd.com/read/29334538/sickle-cell-trait-testing-should-not-be-a-player-in-ncaa-athletics-examining-the-media-s-role-in-disseminating-awareness-and-information
#1
Anil P George, Antonio Logan, Mindy Simpson, Paul M Kent
No abstract text is available yet for this article.
January 12, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29331296/a-case-of-autosplenectomy-in-sickle-cell-trait-following-an-exposure-to-high-altitude
#2
Uday Yanamandra, Reena Das, Pankaj Malhotra, Subhash Varma
A 24-year-old man presented with acute abdominal pain upon ascent to moderate altitude (3500 m). An immediate evaluation revealed a splenic infarct, and he was evacuated to sea level. Upon recovery, he was sent back to 3500 m without detailed etiological evaluation, whereupon he experienced recurrent episodes of left-side subcostal pain. Imaging suggested autosplenectomy, and workup revealed a negative thrombophilia profile but was positive for sickle cell trait (SCT). Individuals with SCT can be asymptomatic until exposure to severe hypoxia, upon which they can manifest clinically as sickle cell syndrome...
January 10, 2018: Wilderness & Environmental Medicine
https://www.readbyqxmd.com/read/29326800/sterile-abscess-of-the-spleen-and-the-sickle-cell-trait
#3
COMMENT
Lucio Luzzatto
No abstract text is available yet for this article.
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29313433/hb-f-levels-in-indian-sickle-cell-patients-and-association-with-the-hbb-locus-variant-rs10128556-c-t-and-the-hbg-xmni-arab-indian-variant
#4
Aparna A Bhanushali, Kumari Himani, Pradeep K Patra, Bibhu R Das
The prevalence of sickle cell disease in India is very high. Hb F is one of the most powerful modulators of disease severity in sickle cell disease patients. It was traditionally thought that the disease is milder in Indian sickle cell disease patients predominantly due to the Arab-Indian haplotype characterized by the HBG XmnI [rs7482144 (G>A)] variant, which is associated with increased Hb F levels. In the current study, we investigated the Hb F levels in individuals with the rs10128556 (C>T) variant and also determined its linkage with the HBG XmnI variant...
July 2017: Hemoglobin
https://www.readbyqxmd.com/read/29291201/sickle-cell-and-alpha-thalassemia-traits-resulting-in-non-atherosclerotic-myocardial-infarction-beyond-coincidence
#5
Lee S Nguyen, Alban Redheuil, Olivier Mangin, Joe-Elie Salem
Alpha-thalassemia trait and sickle trait are not commonly considered risk factors of ischemic heart disease. We report the case of a non-atherosclerotic silent myocardial infarction in a 46-year-old woman, carrier of the alpha-thalassemia trait (homozygous deletion of locus -3.7) combined with sickle cell trait. While the patient was included as healthy volunteer for a metabolic study, we performed cardiac magnetic resonance imagery showing a left ventricle apicolateral myocardial infarction. Coronary computed tomography angiography showed normal coronary arteries with a coronary calcium score of 0...
December 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/29260650/impact-of-sickle-cell-trait-and-naturally-acquired-immunity-on-uncomplicated-malaria-after-controlled-human-malaria-infection-in-adults-in-gabon
#6
Bertrand Lell, Benjamin Mordmüller, Jean-Claude Dejon Agobe, Josiane Honkpehedji, Jeannot Zinsou, Juliana Boex Mengue, Marguerite Massinga Loembe, Ayola Akim Adegnika, Jana Held, Albert Lalremruata, The Trong Nguyen, Meral Esen, Natasha Kc, Adam J Ruben, Sumana Chakravarty, B Kim Lee Sim, Peter Billingsley, Eric James, Thomas L Richie, Stephen L Hoffman, Peter G Kremsner
Controlled human malaria infection (CHMI) by direct venous inoculation (DVI) with 3,200 cryopreserved Plasmodium falciparum sporozoites (PfSPZ) consistently leads to parasitemia and malaria symptoms in malaria-naive adults. We used CHMI by DVI to investigate infection rates, parasite kinetics, and malaria symptoms in lifelong malaria-exposed (semi-immune) Gabonese adults with and without sickle cell trait. Eleven semi-immune Gabonese with normal hemoglobin (IA), nine with sickle cell trait (IS), and five nonimmune European controls with normal hemoglobin (NI) received 3,200 PfSPZ by DVI and were followed 28 days for parasitemia by thick blood smear (TBS) and quantitative polymerase chain reaction (qPCR) and for malaria symptoms...
December 18, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29211182/-prevalence-of-hemoglobin-variants-in-quilombola-communities-in-the-state-of-piau%C3%A3-brazil
#7
Leonardo Ferreira Soares, Eleonidas Moura Lima, José Alexsandro da Silva, Suenia Soares Fernandes, Keyla Malba da Costa Silva, Sarah Pereira Lins, Bolivar Ponciano Goulart de Lima Damasceno, Roseane Mara Cardoso Lima Verde, Marilda de Souza Gonçalves
Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC)...
November 2017: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/29184322/situational-analysis-of-sickle-cell-disease-in-gujarat-india
#8
Deepak Saxena, Sandul Yasobant, Mahaveer Golechha
Background: Sickle cell disease (SCD) is a major public health concern in tribal community not only in Gujarat but also globally. Gujarat, a western state of India, has 89.12 lakh tribal populations and is expected to have at least 9,00,000 sickle cell trait and 70,000 SCD patients. The aim of the present review is to document the prevalence of SCD in various communities and various screening methods adapted. Methodology: An in-depth literature review was carried out using available search engines such as Cochrane Library, PubMed, Scopus etc...
October 2017: Indian Journal of Community Medicine
https://www.readbyqxmd.com/read/29178654/sickle-cell-trait-knowledge-and-health-literacy-in-caregivers-who-receive-in-person-sickle-cell-trait-education
#9
Susan Creary, Ismahan Adan, Joseph Stanek, Sarah H O'Brien, Deena J Chisolm, Tanica Jeffries, Kristin Zajo, Elizabeth Varga
BACKGROUND: Despite universal screening that detects sickle cell trait (SCT) in infancy, only 16% of Americans with SCT know their status. To increase SCT status awareness, effective education for patients and their families is needed. The objective of this study was to assess caregivers' SCT knowledge before and after an in-person SCT education session. METHODS: A trained educator provides in-person SCT education to caregivers of referred infants with SCT at Nationwide Children's Hospital...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29147675/newborn-screening-for-sickle-cell-disease-in-st-vincent-and-the-grenadines-results-of-a-pilot-newborn-screening-program
#10
Shelly-Ann Williams, Beneka Browne-Ferdinand, Ynolde Smart, Kristen Morella, Susan G Reed, Julie Kanter
Objective: To pilot a newborn screening program for sickle cell disease (SCD) in St. Vincent and the Grenadines using a novel partnership method to determine the feasibility of a universal newborn screening program in this country. Methods: A prospective study of mothers and their newborns was conducted between January 1, 2015, and November 1, 2015, at the country's main hospital. Mothers of infants born at this hospital were offered screening for SCD for their infants. If accepted, the newborn's heel-stick blood specimen was obtained and mailed to the South Carolina Department of Health and Environmental Control Newborn Screening Laboratory for testing...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/29135630/news-and-views-on-caffeine-creatine-kinase-levels-and-sickle-cell-trait
#11
E Randy Eichner
No abstract text is available yet for this article.
November 2017: Current Sports Medicine Reports
https://www.readbyqxmd.com/read/29098096/hbs-sicilian-%C3%AE-%C3%AE-0-thalassemia-a-rare-variant-of-sickle-cell
#12
Grace Onimoe, Genine Smarzo
Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)0-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as "FS" and a negative family history for sickle cell disease and sickle cell trait...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29052590/reversing-the-tide-diagnosis-and-prevention-of-t2dm-in-populations-of-african-descent
#13
REVIEW
Jean N Utumatwishima, Stephanie T Chung, Amy R Bentley, Margaret Udahogora, Anne E Sumner
Populations of African descent are at the forefront of the worldwide epidemic of type 2 diabetes mellitus (T2DM). The burden of T2DM is amplified by diagnosis after preventable complications of the disease have occurred. Earlier detection would result in a reduction in undiagnosed T2DM, more accurate statistics, more informed resource allocation and better health. An underappreciated factor contributing to undiagnosed T2DM in populations of African descent is that screening tests for hyperglycaemia, specifically, fasting plasma glucose and HbA1c, perform sub-optimally in these populations...
January 2018: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/29048948/the-spectrum-of-sickle-hemoglobin-related-nephropathy-from-sickle-cell-disease-to-sickle-trait
#14
Rakhi P Naik, Vimal K Derebail
Renal dysfunction is among the most common complication of sickle cell disease (SCD), from hyposthenuria in children to progression to overt chronic kidney disease (CKD) in young adults. Emerging evidence now suggests that sickle hemoglobin-related nephropathy extends to individuals with sickle cell trait (SCT). Areas covered: This review will highlight the pathophysiology, epidemiology, and management recommendations for sickle hemoglobin-related nephropathy in both SCD and SCT. In addition, it will focus on the major demographic and genetic modifiers of renal disease in sickling hemoglobinopathies...
December 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/29038713/coexistence-of-lupus-nephritis-and-sickle-cell-trait-an-electron-microscopic-assessment-of-renal-glomerular-damage-case-report-of-a-rare-association
#15
Yahya Elficki, Atif Rawas, Asseil Ali Bossei, Areej Bdawod, Reem Zabani, Bayan Shams
Because of similarities of the musculoskeletal, central nervous system, and renal manifestations in both diseases, diagnosing systemic lupus erythematosus (SLE) in sickle cell disease (SCD) patients can be difficult to establish. Although Sickle Cell Trait (SCT) is still considered a benign form of SCD, its impact on kidney injury and other renal manifestations is well recognized in the literature. In this case report, we look at the challenges that develop when diagnosing patients with a concurrence of both diseases and the importance of early recognition and treatment of lupus nephritis in SCT patients...
September 2017: Electronic Physician
https://www.readbyqxmd.com/read/29033373/evaluating-the-causal-link-between-malaria-infection-and-endemic-burkitt-lymphoma-in-northern-uganda-a-mendelian-randomization-study
#16
Ismail D Legason, Ruth M Pfeiffer, Krizia-Ivana Udquim, Andrew W Bergen, Mateus H Gouveia, Samuel Kirimunda, Isaac Otim, Eric Karlins, Patrick Kerchan, Hadijah Nabalende, Ariunaa Bayanjargal, Benjamin Emmanuel, Paul Kagwa, Ambrose O Talisuna, Kishor Bhatia, Meredith Yeager, Robert J Biggar, Leona W Ayers, Steven J Reynolds, James J Goedert, Martin D Ogwang, Joseph F Fraumeni, Ludmila Prokunina-Olsson, Sam M Mbulaiteye
BACKGROUND: Plasmodium falciparum (Pf) malaria infection is suspected to cause endemic Burkitt Lymphoma (eBL), but the evidence remains unsettled. An inverse relationship between sickle cell trait (SCT) and eBL, which supports that between malaria and eBL, has been reported before, but in small studies with low power. We investigated this hypothesis in children in a population-based study in northern Uganda using Mendelian Randomization. METHODS: Malaria-related polymorphisms (SCT, IL10, IL1A, CD36, SEMA3C, and IFNAR1) were genotyped in 202 eBL cases and 624 controls enrolled during 2010-2015...
November 2017: EBioMedicine
https://www.readbyqxmd.com/read/29027199/characterization-of-a-mouse-model-of-sickle-cell-trait-parallels-to-human-trait-and-a-novel-finding-of-cutaneous-sensitization
#17
Katherine J Zappia, Yihe Guo, Dawn Retherford, Nancy J Wandersee, Cheryl L Stucky, Cheryl A Hillery
Sickle cell trait (SCT) has classically been categorized as a benign condition except in rare cases or upon exposure to severe physical conditions. However, several lines of evidence indicate that individuals with SCT are not always asymptomatic, and additional physiological changes and risks may remain unexplored. Here, we utilized mice harbouring one copy of normal human β globin and one copy of sickle human β globin as a model of SCT to assess haematological, histopathological and somatosensory outcomes...
November 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29024210/a-case-of-anaplastic-lymphoma-kinase-positive-renal-cell-carcinoma-coincident-with-hodgkin-lymphoma
#18
Yuzo Oyama, Haruto Nishida, Takahiro Kusaba, Hiroko Kadowaki, Motoki Arakane, Tsutomu Daa, Dai Watanabe, Yasuyuki Akita, Fuminori Sato, Hiromitsu Mimata, Shigeo Yokoyama
We report a case of ALK-positive renal cell carcinoma coincident with Hodgkin lymphoma. The patient was a 19 year-old-girl without sickle cell trait. The right renal tumor was discovered concomitantly with Hodgkin lymphoma (HL). After chemotherapy for HL, right nephrectomy was performed. Microscopically, the tumor showed a solid and focally pseudo-papillary growth pattern studded with tubular structures. Most tumor cells were small bland eosinophilic cells, but rhabdoid cells, vacuolated cells, pleomorphic multinucleated giant cells were also admixed...
October 12, 2017: Pathology International
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
#19
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/29020197/sickle-cell-trait-and-heat-injury-among-u-s-army-soldiers
#20
D Alan Nelson, Patricia A Deuster, Francis G O'Connor, Lianne M Kurina
There is concern that sickle cell trait increases risk of exertional collapse, a primary cause of which is heat injury. However, no population-based studies among active individuals have addressed this, representing a critical evidence gap. We conducted a retrospective cohort study of sickle cell trait-tested African American soldiers on active-duty in the U.S. Army anytime between January 2011 and December 2014. Using Cox proportional hazards models and adjusting for demographic and medical factors, we observed no significant associations between sickle cell trait and either mild heat injury (hazard ratio (HR), 1...
August 17, 2017: American Journal of Epidemiology
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