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sickle cell trait

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https://www.readbyqxmd.com/read/27912798/bilateral-anomalous-drainage-of-the-posterior-divisions-of-renal-veins-into-the-azygos-venous-system-in-a-20-year-old-woman-a-case-report
#1
Pedro Pallangyo, Frederick Lyimo, Paulina Nicholaus, Stephano Masatu, Mohamed Janabi
BACKGROUND: Renal vein anomalies are relatively infrequent and generally asymptomatic. Preoperative knowledge of such variants is, however, of paramount importance in several angiographic and surgical procedures including renal venography, renal vein sampling, spermatic embolization, and renal transplantation. Inadequate knowledge and failure to recognize such anatomic variations may lead to several operative hazards including hemorrhage, nephrectomy, and even death. CASE PRESENTATION: We report a case of bilateral anomalous drainage of the posterior divisions of renal veins into the azygos venous system in a 20-year-old woman of African descent from Tanzania who presented to us with a 12-year history of recurrent anemia...
December 3, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27875493/acute-lumbar-paraspinal-myonecrosis-in-football-players-with-sickle-cell-trait-a-case-series
#2
E Randy Eichner, Brock Schnebel, Scott Anderson, James R Clugston, Heath Hale, Charlie Michaudet, John M Small
We report 6 cases of a novel syndrome of acute, exertional low back pain (LBP) in football players, 5 in college and one in the National Football League (NFL). All 6 are African-Americans with sickle cell trait (SCT). The acute LBP is severe and can be disabling, and the condition can be confused with muscle strain, discogenic pain, stress fracture, or other problems in athletes. Our evidence shows that this syndrome is caused by lumbar paraspinal myonecrosis (LPSMN), which likely often contributes to the lumbar paraspinal compartment syndrome...
November 21, 2016: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/27860149/management-and-outcomes-of-patients-with-renal-medullary-carcinoma-a-multi-center-collaborative-study
#3
Amishi Y Shah, Jose A Karam, Gabriel G Malouf, Priya Rao, Zita D Lim, Eric Jonasch, Lianchun Xiao, Jianjun Gao, Ulka N Vaishampayan, Daniel Y Heng, Elizabeth R Plimack, Elizabeth A Guancial, Chunkit Fung, Stefanie R Lowas, Pheroze Tamboli, Kanishka Sircar, Surena F Matin, W Kimryn Rathmell, Christopher G Wood, Nizar M Tannir
OBJECTIVE: To describe the management strategies and outcomes of patients with renal medullary carcinoma (RMC) and characterize predictors of overall survival (OS). PATIENTS AND METHODS: RMC is a rare and aggressive malignancy that afflicts young patients with sickle cell trait; there are limited data on management to date. This is a study of patients with RMC who were treated during 2000-2015 at eight academic institutions in North America and France. The Kaplan-Meier method was used to estimate OS, measured from initial RMC diagnosis to date of death...
November 8, 2016: BJU International
https://www.readbyqxmd.com/read/27856464/longitudinal-association-among-sickle-cell-trait-fitness-and-cardiovascular-disease-risk-factors-in-african-americans-in-cardia
#4
Robert I Liem, Cheeling Chan, Thanh-Huyen T Vu, Myriam Fornage, Alexis A Thompson, Kiang Liu, Mercedes R Carnethon
The contribution of sickle cell trait (SCT) to racial disparities in cardiopulmonary fitness is not known despite concerns that SCT is associated with exertion-related sudden death. We evaluated the association of SCT status with cross-sectional and longitudinal changes in fitness and risk of hypertension, diabetes and metabolic syndrome over 25 years among 1,995 African Americans (56% women, 18 to 30 years old) in the Coronary Artery Risk Development in Young Adults (CARDIA) study. Overall, the prevalence of SCT was 6...
November 16, 2016: Blood
https://www.readbyqxmd.com/read/27855617/eryptosis-ally-or-enemy
#5
Marilena Briglia, Maria Antonia Rossi, Caterina Faggio
Prior to senescence, erythrocytes may, experience injury which compromises their integrity and thus triggers suicidal erythrocyte death or eryptosis. This mechanism is characterised by cell shrinkage, cell membrane blebbing, and cell membrane phospholipid scrambling after phosphatidylserine exposure on the cell surface that is identified by macrophages which engulf and degrade the eryptotic cells. The term eryptosis also includes typical mechanisms, which contribute to the triggering of this process. Among them: oxidative stress, Ca2+ entry with an increase in cytosolic Ca2+ activity ([Ca ]i) and the activation of p38 kinase, which is a kinase expressed in human erythrocytes and activated after hyperosmotic shock...
November 18, 2016: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/27852523/anemia-offers-stronger-protection-than-sickle-cell-trait-against-the-erythrocytic-stage-of-falciparum-malaria-and-this-protection-is-reversed-by-iron-supplementation
#6
M M Goheen, R Wegmüller, A Bah, B Darboe, E Danso, M Affara, D Gardner, J C Patel, A M Prentice, C Cerami
BACKGROUND: Iron deficiency causes long-term adverse consequences for children and is the most common nutritional deficiency worldwide. Observational studies suggest that iron deficiency anemia protects against Plasmodiumfalciparum malaria and several intervention trials have indicated that iron supplementation increases malaria risk through unknown mechanism(s). This poses a major challenge for health policy. We investigated how anemia inhibits blood stage malaria infection and how iron supplementation abrogates this protection...
November 9, 2016: EBioMedicine
https://www.readbyqxmd.com/read/27796853/newborn-screening-for-sickle-cell-disease-in-jamaica-logistics-and-experience-with-umbilical-cord-samples
#7
G R Serjeant, B E Serjeant, K P Mason, R Gardner, L Warren, F Gibson, M Coombs
The study aims to describe the logistics and results of a programme for newborn screening for sickle cell disease based on samples from the umbilical cord. Samples were dried on Guthrie cards and analysed by high pressure liquid chromatography. All suspected clinically significant abnormal genotypes were confirmed by age 4-6 weeks with family studies and then recruited to local sickle cell clinics. The programme has screened 66,833 samples with the sickle cell trait in 9.8 % and the HbC trait in 3.8 %. Sickle cell syndromes occurred in 407 babies (204 SS, 148 SC, 35 Sbeta(+) thalassaemia, 6 Sbeta(o) thalassaemia, 6 sickle cell-variants, 8 sickle cell-hereditary persistence of fetal haemoglobin) and HbC syndromes in 42 (22 CC, 14 Cbeta(+) thalassaemia, 1 Cbeta(o) thalassaemia, 5 HbC- hereditary persistence of fetal haemoglobin)...
October 29, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27775898/managing-acute-complications-of-sickle-cell-disease-in-pediatric-patients
#8
Sathyaseelan Subramaniam, Jennifer H Chao
Sickle cell disease is a chronic hematologic disease with a variety of acute, and often recurring, complications. Vaso-occlusive crisis, a unique but common presentation in sickle cell disease, can be challenging to manage. Acute chest syndrome is the leading cause of death in patients with sickle cell disease, occurring in more than half of patients who are hospitalized with a vaso-occlusive crisis. Uncommon diagnoses in children, such as stroke, priapism, and transient red cell aplasia, occur more frequently in patients with sickle cell disease and necessitate a degree of familiarity with the disease process and its management...
November 2016: Pediatric Emergency Medicine Practice
https://www.readbyqxmd.com/read/27774971/acute-myocardial-infarction-in-a-patient-with-sickle-cell-trait
#9
Oğuz Akkuş, Mustafa Topuz, Ali Deniz
Presently described is the rare complication of sickle cell trait (HbAS) with acute inferior myocardial infarction in a young adult patient. Angiogram revealed microemboli in the distal thin segment of the circumflex (Cx) artery. Anticoagulant and anti-aggregant therapies were initiated to restore Cx artery flow. HbAS was detected as an underlying pathology. ST segments returned to the isoelectric line and the patient became asymptomatic.
October 2016: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/27774352/feasibility-of-a-community-based-sickle-cell-trait-testing-and-counseling-program
#10
Ashley J Housten, Regina A Abel, Terianne Lindsey, Allison A King
BACKGROUND: Sickle cell trait (SCT) screening is required at birth in the United States; however, adults rarely know their SCT status prior to having children. PURPOSE: Assess feasibility of a community-based SCT education and testing intervention. METHODS: Participants were recruited from eight community sites to complete an educational program and offered a hemoglobin analysis. A genetic counselor met individually with participants to discuss lab results...
2016: Journal of Health Disparities Research and Practice
https://www.readbyqxmd.com/read/27757216/gbt440-inhibits-sickling-of-sickle-cell-trait-blood-under-in-vitro-conditions-mimicking-strenuous-exercise
#11
Kobina Dufu, Josh Lehrer-Graiwer, Eleanor Ramos, Donna Oksenberg
In sickle cell trait (SCT), hemoglobin A (HbA) and S (HbS) are co-expressed in each red blood cell (RBC). While homozygous expression of HbS (HbSS) leads to polymerization and sickling of RBCs resulting in sickle cell disease (SCD) characterized by hemolytic anemia, painful vaso-occlusive episodes and shortened life-span, SCT is considered a benign condition usually with minor or no complications related to sickling. However, physical activities that cause increased tissue oxygen demand, dehydration and/or metabolic acidosis leads to increased HbS polymerization and life-threatening complications including death...
September 28, 2016: Hematology Reports
https://www.readbyqxmd.com/read/27728824/individual-variability-in-response-to-a-single-sickling-event-for-normal-sickle-cell-and-sickle-trait-erythrocytes
#12
M Tarasev, M Muchnik, L Light, K Alfano, S Chakraborty
Hemoglobin S (Hb-S) polymerization is the primary event in sickle cell disease causing irreversible damage to red blood cell (RBC) membranes over repeated polymerization cycles. A single polymerization triggered by a hypoxic environment was reported to result in reversibly (upon reoxygenation) decreased RBC deformability and increased mechanical fragility (MF). Individualized responses have not been reported, although RBC fragility can vary significantly even among healthy individuals. This study evaluates individual variability in response to a single hypoxia-induced sickling event, through changes in RBC MF...
September 23, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/27703480/glucose-6-phosphate-dehydrogenase-deficiency-and-sickle-cell-trait-among-prospective-blood-donors-a-cross-sectional-study-in-berekum-ghana
#13
Patrick Adu, David Larbi Simpong, Godfred Takyi, Richard K D Ephraim
Background. Blood transfusion is a therapeutic procedure usually undertaken in patients with severe anaemia. In Ghana, severe anaemia is mostly due to malaria caused by severe Plasmodium falciparum infection, road traffic accidents, and haemoglobinopathy-induced acute haemolysis. Method. This cross-sectional study evaluated coinheritance of sickle cell haemoglobin variant and G6PD enzymopathy among individuals that donated blood at the Holy Trinity Hospital, Berekum, in the Brong-Ahafo Region, Ghana. Demographic data and other pertinent information were captured using questionnaire...
2016: Advances in Hematology
https://www.readbyqxmd.com/read/27671736/plasmodium-falciparum-infection-in-febrile-congolese-children-prevalence-of-clinical-malaria-10-years-after-introduction-of-artemisinin-combination-therapies
#14
Mandingha Kosso Etoka-Beka, Francine Ntoumi, Michael Kombo, Julia Deibert, Pierre Poulain, Christevy Vouvoungui, Simon Charles Kobawila, Felix Koukouikila-Koussounda
OBJECTIVES: To investigate the proportion of malaria infection in febrile children consulting a paediatric hospital in Brazzaville, to determine the prevalence of submicroscopic malaria infection, to characterise Plasmodium falciparum infection and compare the prevalence of uncomplicated P. falciparum malaria according to haemoglobin profiles. METHODS: Blood samples were collected from children aged <10 years with an axillary temperature ≥37.5 °C consulting the paediatric ward of Marien Ngouabi Hospital in Brazzaville...
December 2016: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/27670685/acquisition-of-natural-humoral-immunity-to-p-falciparum-in-early-life-in-benin-impact-of-clinical-environmental-and-host-factors
#15
Célia Dechavanne, Ibrahim Sadissou, Aziz Bouraima, Claude Ahouangninou, Roukiyath Amoussa, Jacqueline Milet, Kabirou Moutairou, Achille Massougbodji, Michael Theisen, Edmond J Remarque, David Courtin, Gregory Nuel, Florence Migot-Nabias, André Garcia
To our knowledge, effects of age, placental malaria infection, infections during follow-up, nutritional habits, sickle-cell trait and individual exposure to Anopheles bites were never explored together in a study focusing on the acquisition of malaria antibody responses among infants living in endemic areas.Five hundred and sixty-seven Beninese infants were weekly followed-up from birth to 18 months of age. Immunoglobulin G (IgG), IgG1 and IgG3 specific for 5 malaria antigens were measured every 3 months. A linear mixed model was used to analyze the effect of each variable on the acquisition of antimalarial antibodies in 6-to18-month old infants in univariate and multivariate analyses...
September 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27650483/african-ancestry-specific-alleles-and-kidney-disease-risk-in-hispanics-latinos
#16
Holly J Kramer, Adrienne M Stilp, Cathy C Laurie, Alex P Reiner, James Lash, Martha L Daviglus, Sylvia E Rosas, Ana C Ricardo, Bamidele O Tayo, Michael F Flessner, Kathleen F Kerr, Carmen Peralta, Ramon Durazo-Arvizu, Matt Conomos, Timothy Thornton, Jerome Rotter, Kent D Taylor, Jainwen Cai, John Eckfeldt, Han Chen, George Papanicolau, Nora Franceschini
African ancestry alleles may contribute to CKD among Hispanics/Latinos, but whether associations differ by Hispanic/Latino background remains unknown. We examined the association of CKD measures with African ancestry-specific APOL1 alleles that were directly genotyped and sickle cell trait (hemoglobin subunit β gene [HBB] variant) on the basis of imputation in 12,226 adult Hispanics/Latinos grouped according to Caribbean or Mainland background. We also performed an unbiased genome-wide association scan of urine albumin-to-creatinine ratios...
September 20, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27636371/genome-wide-analysis-identifies-il-18-and-fuca2-as-novel-genes-associated-with-diastolic-function-in-african-americans-with-sickle-cell-disease
#17
Julio D Duarte, Ankit A Desai, Justin R Sysol, Taimur Abbasi, Amit R Patel, Roberto M Lang, Akash Gupta, Joe G N Garcia, Victor R Gordeuk, Roberto F Machado
BACKGROUND: Diastolic dysfunction is common in sickle cell disease (SCD), and is associated with an increased risk of mortality. However, the molecular pathogenesis underlying this development is poorly understood. The aim of this study was to identify a gene expression profile that is associated with diastolic function in SCD, potentially elucidating molecular mechanisms behind diastolic dysfunction development. METHODS: Diastolic function was measured via echocardiography in 65 patients with SCD from two independent study populations...
2016: PloS One
https://www.readbyqxmd.com/read/27614873/prevalence-of-sickle-cell-trait-and-reliability-of-self-reported-status-among-expectant-parents-in-nigeria-implications-for-targeted-newborn-screening
#18
Amanda R Burnham-Marusich, Chinenye O Ezeanolue, Michael C Obiefune, Wei Yang, Alice Osuji, Amaka G Ogidi, Aaron T Hunt, Dina Patel, Echezona E Ezeanolue
BACKGROUND/AIMS: Sickle cell disease (SCD) is a life-threatening, autosomal recessive blood disorder prevalent in sub-Saharan Africa. We identified the prevalence of sickle cell trait (SCT) among pregnant women and their male partners in Enugu State, Nigeria, and determined the accuracy of self-reported sickle cell status and its reliability for identifying high-risk newborns for targeted screening. METHODS: We conducted a nested cohort study of expectant parents enrolled in the Healthy Beginning Initiative (HBI)...
2016: Public Health Genomics
https://www.readbyqxmd.com/read/27605462/a-rapid-inexpensive-and-disposable-point-of-care-blood-test-for-sickle-cell-disease-using-novel-highly-specific-monoclonal-antibodies
#19
Charles T Quinn, Mary C Paniagua, Robert K DiNello, Anand Panchal, Mark Geisberg
Sickle cell disease (SCD) is a significant healthcare burden worldwide, but most affected individuals reside in low-resource areas where access to diagnostic testing may be limited. We developed and validated a rapid, inexpensive, disposable diagnostic test, the HemoTypeSC(™) , based on novel monoclonal antibodies (MAbs) that differentiate normal adult haemoglobin (Hb A), sickle haemoglobin (Hb S) and haemoglobin C (Hb C). In competitive enzyme-linked immunosorbent assays, each MAb bound only its target with <0·1% cross-reactivity...
November 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27580882/a-genetic-variation-associated-with-plasma-erythropoietin-and-a-non-coding-transcript-of-prkar1a-in-sickle-cell-disease
#20
Xu Zhang, Binal N Shah, Wei Zhang, Santosh L Saraf, Galina Miasnikova, Adelina Sergueeva, Tatiana Ammosova, Xiaomei Niu, Mehdi Nouraie, Sergei Nekhai, Oswaldo Castro, Mark T Gladwin, Josef T Prchal, Joe G N Garcia, Roberto F Machado, Victor R Gordeuk
Blood erythropoietin (EPO) increases primarily to hypoxia. In sickle cell anemia (homozygous HBB(E6V); HbSS), plasma EPO is elevated due to hemolytic anemia-related hypoxia. Hydroxyurea treatment reduces hemolysis and anemia by increasing fetal hemoglobin, which leads to lower hypoxic transcriptional responses in blood mononuclear cells but paradoxically further increases EPO. To investigate this apparent hypoxia-independent EPO regulation, we assessed two sickle cell disease (SCD) cohorts for genetic associations with plasma EPO, by prioritizing 237,079 quantitative trait loci for expression level and/or transcript isoform variations of 12,727 genes derived from SCD blood mononuclear cells...
August 30, 2016: Human Molecular Genetics
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