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sickle cell trait

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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
#1
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
#2
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
#3
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
#4
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
#5
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...
May 31, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28558987/genomic-characterization-of-renal-medullary-carcinoma-and-treatment-outcomes
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
Shimona Starling
No abstract text is available yet for this article.
May 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28362936/high-frequency-of-blackwater-fever-among-children-presenting-to-hospital-with-severe-febrile-illnesses-in-eastern-uganda
#16
Peter Olupot-Olupot, Charles Engoru, Sophie Uyoga, Rita Muhindo, Alex Macharia, Sarah Kiguli, Robert O Opoka, Samuel Akech, Carolyne Ndila, Richard Nyeko, George Mtove, Julius Nteziyaremye, Martin Chebet, Elizabeth C George, Abdel G Babiker, Diana M Gibb, Thomas N Williams, Kathryn Maitland
Background: In the Fluid Expansion as a Supportive Treatment (FEAST) trial, an unexpectedly high proportion of participants from eastern Uganda presented with blackwater fever (BWF). Methods: We describe the prevalence and outcome of BWF among trial participants and compare the prevalence of 3 malaria-protective red blood cell polymorphisms in BWF cases vs both trial (non-BWF) and population controls. Results: Of 3170 trial participants, 394 (12...
April 1, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28360235/venous-thromboembolism-in-adults-screened-for-sickle-cell-trait-a-population-based-cohort-study-with-nested-case-control-analysis
#17
Iain Little, Yana Vinogradova, Elizabeth Orton, Joe Kai, Nadeem Qureshi
OBJECTIVE: To determine whether sickle cell carriers ('sickle cell trait') have an increased risk of venous thromboembolism (VTE). DESIGN: Cohort study with nested case-control analysis. SETTING: General population with data from 609 UK general practices in the Clinical Practice Research Datalink (CPRD). PARTICIPANTS: All individuals registered with a CPRD general practice between 1998 and 2013, with a medical record of screening for sickle cell between 18 and 75 years of age...
March 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/28341086/recurrent-priapism-gone-wrong-st-elevation-myocardial-infarction-and-cardiogenic-shock-after-penile-corporal-phenylephrine-irrigation
#18
S Tyler Constantine, Anand Gopalsami, Gregg Helland
BACKGROUND: Recurrent priapism secondary to sickle cell trait in an African-American male has been reported in the literature. A common treatment for these low-flow priapism cases is aspiration and injection of the corpus cavernosum with a sympathomimetic agent. We report a rare complication not described previously in the literature of ST-elevation myocardial infarction (STEMI) and cardiogenic shock in a 29-year-old male with sickle cell trait undergoing a routine detumescence procedure...
March 21, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28293411/a-strange-manifestation-of-malaria-in-a-native-nigerian-boy
#19
Paola Magro, Ilaria Izzo, Barbara Saccani, Salvatore Casari, Silvio Caligaris, Lina Rachele Tomasoni, Alberto Matteelli, Annamaria Lombardi, Antonella Meini, Francesco Castelli
The protective role of Sickle Cell Trait (SCT) in malaria endemic areas has been proved, and prevalence of HbS gene in malaria endemic areas is high. Splenic infarction is a well-known complication of SCT, while the association with malaria is considered rare. A Nigerian boy was admitted to our ward after returning from his country of origin, for P. falciparum malaria. He underwent abdominal ultrasound for upper right abdominal pain, showing cholecystitis and multiple splenic lesions suggestive of abscesses...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28290965/sickle-cell-trait-prevalence-among-u-s-military-service-members-1992-2012
#20
David W Niebuhr, Ligong Chen, Stephanie Shao, Jonathan Goldsmith, Celia Byrne, Darrell E Singer
BACKGROUND: Population-based estimates of sickle cell trait (SCT) prevalence in the U.S. military across services and over time are lacking. METHODS: SCT prevalence by service, race/ethnicity, and gender in 5-year time intervals was estimated using demographic, ambulatory, and hospital SCT encounter (International Classification of Diseases, 9th Revision, Clinical Modification 282.5) data for active duty, enlisted between 1992 and 2012 and limited SCT laboratory results...
March 2017: Military Medicine
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