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sickle cell trait

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https://www.readbyqxmd.com/read/28716439/renal-cell-carcinoma-unclassified-with-medullary-phenotype-poorly-differentiated-adenocarcinomas-overlapping-with-renal-medullary-carcinoma
#1
Deepika Sirohi, Steven C Smith, Chisato Ohe, Piergiuseppe Colombo, Mukul Divatia, Ema Dragoescu, Priya Rao, Michelle S Hirsch, Ying-Bei Chen, Rohit Mehra, Mahul B Amin
Renal medullary carcinoma (RMC) is a highly aggressive renal cell carcinoma, arising in the collecting system, and requiring careful correlation with status of sickle cell trait. A panel of international experts has recently proposed provisional diagnostic terminology, renal cell carcinoma, unclassified, with medullary phenotype (RCCU-MP), based on encountering an extraordinarily rare tumor with RMC morphology and immunophenotype in an individual proven not to have a hemoglobinopathy. Herein, we extend this observation to a cohort of five such tumors, morphologically similar to RMC, lacking SMARCB1 expression by immunohistochemistry, but each without evidence of a hemoglobinopathy...
July 14, 2017: Human Pathology
https://www.readbyqxmd.com/read/28705443/-impact-of-sickle-cell-trait-on-arterial-stiffness-in-african-subjects
#2
V Ouédraogo, R Soleti, I Signolet, M Diaw, M Hallab, A Samb, R Andriantsitohaina, A Ba, G Lefthériotis
Sickle cell trait (SCT) is the benign condition of sickle cell disease. Often asymptomatic, the carriers of the sickle cell trait have hemorheological disturbances with increased oxidative stress compared to healthy subjects. These disturbances can lead to structural and functional changes in large vessels. The aim of the study was to measure arterial stiffness, an independent marker of subclinical atherosclerosis, SCT carriers compared to sickle cell anemia (SCA) subjects. Nine SCT carriers aged 32±9 years (7 men) were compared to 14 SCA subjects aged 29±9 years (2 men) and 22 control subjects aged 34±9 years (11 men) recruited by the National blood transfusion center (CNTS) in Dakar (Senegal)...
February 2017: J Med Vasc
https://www.readbyqxmd.com/read/28699692/granulocyte-colony-stimulating-factor-administration-among-hemoglobin-s-trait-donors-a-single-center-experience-from-the-eastern-mediterranean-region
#3
Cigdem Gereklioglu, Suheyl Asma, Aslı Korur, Songul Tepebası, Pelin Aytan, Mahmut Yeral, Ilknur Kozanoglu, Can Boga, Hakan Ozdogu
BACKGROUND AND OBJECTIVE: Assessment of Hemoglobin S trait donors has gained importance together with the increased allogeneic peripheral stem cell transplant activity for sickle cell disease in the regions where the disease is prevalent. Outcomes of Granulocyte-Colony Stimulating Factor (G-CSF) administration are obscure for hemoglobin S trait donors. This study aims at investigating the incidence of hemoglobin S carrier status and outcomes of G-CSF administration among donors who live in Eastern Mediterranean region...
July 12, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28697316/renal-medullary-carcinoma-the-kidney-cancer-that-affects-individuals-with-sickle-cell-trait-and-disease
#4
Ofelia A Alvarez
No abstract text is available yet for this article.
July 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28658777/detection-of-compound-heterozygous-sickle-cell-%C3%AE-thalassaemia-in-a-patient-with-extreme-weakness-mild-jaundice-and-moderate-anaemia-a-case-report
#5
Subhash Chandra, Mostafa Ali, Pooja Mishra, Ashok Kumar Kapoor, Yamini Jindal
A 16-year-old female complained of extreme weakness. She had moderate anaemia; her Haemoglobin (Hb) was 7.7 gm/dl. Peripheral blood smear showed few sickled red cells. Sickle cell test was positive. High-Performance Liquid Chromatography (HPLC) revealed elevated levels of HbS (38.4%) and HbF (15.7%). In addition, HbA2 concentration was 3.8% and HbA concentration was 42.1%. Results suggested a diagnosis of compound heterozygous sickle cell-β(+) thalassaemia. Sickle cell test was also positive with blood of patient's brother; Hb HPLC examination showed relatively low concentration of HbS (25...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28610635/cellular-function-reinstitution-of-offspring-red-blood-cells-cloned-from-the-sickle-cell-disease-patient-blood-post-crispr-genome-editing
#6
Jianguo Wen, Wenjing Tao, Suyang Hao, Youli Zu
BACKGROUND: Sickle cell disease (SCD) is a disorder of red blood cells (RBCs) expressing abnormal hemoglobin-S (HbS) due to genetic inheritance of homologous HbS gene. However, people with the sickle cell trait (SCT) carry a single allele of HbS and do not usually suffer from SCD symptoms, thus providing a rationale to treat SCD. METHODS: To validate gene therapy potential, hematopoietic stem cells were isolated from the SCD patient blood and treated with CRISPR/Cas9 approach...
June 13, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28586884/measurement-of-hemoglobin-a1c-in-patients-with-sickle-cell-trait-reply
#7
LETTER
Mary E Lacy, Gregory A Wellenius, Wen-Chih Wu
No abstract text is available yet for this article.
June 6, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28586882/measurement-of-hemoglobin-a1c-in-patients-with-sickle-cell-trait
#8
LETTER
Curt Rohlfing, Steven Hanson, Randie R Little
No abstract text is available yet for this article.
June 6, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28578465/perspectives-and-practices-of-athletic-trainers-and-team-physicians-implementing-the-2010-ncaa-sickle-cell-trait-screening-policy
#9
Mary Anne McDonald, Melissa S Creary, Jill Powell, Lori-Ann Daley, Charlotte Baker, Charmaine Dm Royal
Sickle cell trait (SCT) is usually benign. However, there are some conditions that may lead to SCT-related problems and put athletes with the trait at particular risk. In 2010 the National Collegiate Athletic Association (NCAA) issued a policy that required all Division I (DI) student-athletes to confirm their SCT status or sign a liability waiver to opt out of testing. Athletic trainers and team physicians play key roles in the policy implementation and we examined their perceptions and practices. Between December 2013 and March 2014 we interviewed 13 head athletic trainers and team physicians at NCAA Division I colleges and universities in North Carolina...
June 3, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28567595/do-alpha-thalassemia-fetal-hemoglobin-and-the-ugt1a1-polymorphism-have-an-influence-on-serum-bilirubin-levels-and-cholelithiasis-in-patients-with-sickle-cell-disease
#10
Laura Alencastro de Azevedo, Joyce Bonazzoni, Sandrine Comparsi Wagner, Mariela Granero Farias, Christina M Bittar, Liane Daudt, Simone Martins de Castro
BACKGROUND: Increased destruction of erythrocytes in patients with sickle cell disease results in chronic hyperbilirubinemia and leads to the formation of gallstones. OBJECTIVES: The objective of this study was to determine the combined influence of alpha thalassemia, fetal hemoglobin, and the UGT1A1 polymorphism on serum bilirubin levels and cholelithiasis in patients with sickle cell disease. METHODS: We analyzed 72 patients treated in the outpatient hematology unit of the Clinical Hospital of Porto Alegre...
August 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28558987/genomic-characterization-of-renal-medullary-carcinoma-and-treatment-outcomes
#11
Maria I Carlo, Joshua Chaim, Sujata Patil, Yelena Kemel, Alison M Schram, Kaitlin Woo, Devyn Coskey, Gouri J Nanjangud, Martin H Voss, Darren R Feldman, James J Hsieh, A Ari Hakimi, Ying-Bei Chen, Robert J Motzer, Chung-Han Lee
BACKGROUND: Renal medullary carcinoma (RMC) is a rare and aggressive type of kidney cancer that primarily affects young adults with sickle cell trait; outcomes are poor despite treatment. Identifying molecular features of this tumor could provide biologic rationale for novel targeted therapies. The objective was to report on clinical outcomes with systemic therapy and characterize molecular features. PATIENTS AND METHODS: This was a retrospective analysis on 36 patients given a pathologic diagnosis of RMC at one institution from 1995 to 2015...
April 26, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28550003/an-mhealth-framework-to-improve-birth-outcomes-in-benue-state-nigeria-a-study-protocol
#12
Echezona Edozie Ezeanolue, Semiu Olatunde Gbadamosi, John Olajide Olawepo, Juliet Iwelunmor, Daniel Sarpong, Chuka Eze, Amaka Ogidi, Dina Patel, Chima Onoka
BACKGROUND: The unprecedented coverage of mobile technology across the globe has led to an increase in the use of mobile health apps and related strategies to make health information available at the point of care. These strategies have the potential to improve birth outcomes, but are limited by the availability of Internet services, especially in resource-limited settings such as Nigeria. OBJECTIVE: Our primary objective is to determine the feasibility of developing an integrated mobile health platform that is able to collect data from community-based programs, embed collected data into a smart card, and read the smart card using a mobile phone-based app without the need for Internet access...
May 26, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28520780/towards-a-point-of-care-strip-test-to-diagnose-sickle-cell-anemia
#13
Meaghan Bond, Brady Hunt, Bailey Flynn, Petri Huhtinen, Russell Ware, Rebecca Richards-Kortum
A rapid test to identify patients with sickle cell disease could have important benefits in low-resource settings. Sickle cell anemia (SCA) affects about 300,000 newborns each year, the majority of whom are born in sub-Saharan Africa. Low-cost therapies are available to treat SCA, but most countries in sub-Saharan Africa lack robust neonatal screening programs needed to identify patients in need of treatment. To address this need, we developed and evaluated a competitive lateral flow assay that identifies patients with SCA (genotype HbSS) in 15 minutes using undiluted whole blood...
2017: PloS One
https://www.readbyqxmd.com/read/28489705/retinal-and-choroidal-vascular-occlusion-following-aqueous-misdirection-syndrome-in-a-patient-with-sickle-cell-trait
#14
Samantha Dewundara, Nariman Nassiri, Johnstone M Kim, Huseyin Kadikoy, Wendewessen Amde, Justin Tannir, Bret A Hughes, Gary W Abrams
PURPOSE: To report a patient with retinal and choroidal vascular occlusion as a presenting sign of sickle cell trait following the development of aqueous misdirection syndrome. METHODS: Retrospective chart review. RESULTS: A patient treated for bilateral chronic angle-closure glaucoma with sequential EX-PRESS glaucoma filtration device surgery developed sequential bilateral aqueous misdirection syndrome. The left eye developed retinal arterial and localized choroidal vascular occlusions subsequent to an acute elevation in intraocular pressure and possibly the use of oral acetazolamide...
May 9, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28485059/renal-medullary-carcinoma-a-national-analysis-of-159-patients
#15
Brian Ezekian, Brian Englum, Brian F Gilmore, Uttara P Nag, Jina Kim, Harold J Leraas, Jonathan C Routh, Henry E Rice, Elisabeth T Tracy
BACKGROUND: Renal medullary carcinoma (RMC) is an aggressive malignancy seen predominantly in young males with sickle cell trait. RMC is poorly understood, with fewer than 220 cases described in the medical literature to date. We used a large national registry to define the typical presentation, treatments, and outcomes of this rare tumor. METHODS: The National Cancer Database was queried for patients under 40 years of age diagnosed with RMC from 1998 to 2011. An analysis of patient and tumor characteristics, treatment details, and overall survival (OS) was undertaken, and factors associated with mortality were identified using multivariable regression analysis...
May 9, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28479774/renal-medullary-carcinoma-with-an-ophthalmic-metastasis
#16
Christine Ibilibor, Allen Medway, Thomas Nelius
Renal medullary carcinoma (RMC) is a rare, aggressive primary renal malignancy that classically occurs in adolescent males with sickle cell trait and universally presents with metastatic disease at presentation. We report a case of medullary carcinoma in a young man with likely ophthalmic metastasis. We also review relevant literature available to date. The patient is a 20-year-old African-American male with a past medical history significant to for sickle cell trait who presented to the University Medical Center with cough and the right eye pain for 1 month as well as painless gross hematuria for 1 week...
April 2017: Urology Annals
https://www.readbyqxmd.com/read/28465845/bilateral-pulmonary-embolism-after-a-short-haul-flight-in-a-man-with-multiple-risk-factors-including-sickle-cell-trait
#17
Kamille Abdool, Kanterpersad Ramcharan, Antonio J Reyes, Nadiene Lutchman, Adrian Alexander
We report a case of pulmonary embolism (PE) in an Afro-Caribbean man following a short commercial flight of less than 5,000 kilometers (Km) in economy class with a 1-month interval between journeys. He had an elevated body mass index (BMI) and sickle cell trait (SCT) with hyperhomocysteinemia. No other preexisting source of venous thrombosis was found. We posit that venous thromboembolism (VTE) and/or PE may have been a complication of SCT in an individual with other multiple risk factors. We discuss the possible interaction of these risk factors for VTE and/or PE and the implications for travelers at risk...
2017: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/28441316/hemolysis-following-intraoperative-cell-salvage-replacement-in-a-scoliosis-patient-with-sickle-cell-trait-a-case-report
#18
Daniel You, Alejandro Peiro Garcia, Fabio Ferri-de-Barros, David Parsons
STUDY DESIGN: Case Report. OBJECTIVE: To describe a novel presentation of acute renal failure associated with hemolysis following intraoperative cell salvage (ICS) in a neuromuscular scoliosis patient with sickle cell trait (SCT). SUMMARY OF BACKGROUND DATA: Hemolysis associated acute renal failure following ICS in patients with SCT has not been previously reported. Sickle cell disease is regarded as a relative contraindication for ICS due to the risk of red blood cell sickling in the hypoxic cell saver reservoir...
April 24, 2017: Spine
https://www.readbyqxmd.com/read/28377104/neurological-complications-in-subjects-with-sickle-cell-disease-or-trait-an-observational-study-from-mali
#19
Guida Landouré, Lassana Cissé, Boubacar A Touré, Abdoulaye Yalcouyé, Toumany Coulibaly, Mamadou Karambé, Adama S Sissoko, Thomas Coulibaly, Ambroise Wonkam, Cheick O Guinto
No abstract text is available yet for this article.
April 1, 2017: Global Heart
https://www.readbyqxmd.com/read/28366943/epidemiology-sickle-cell-trait-increases-esrd-risk
#20
Shimona Starling
No abstract text is available yet for this article.
May 2017: Nature Reviews. Nephrology
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