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sickle cell trait

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https://www.readbyqxmd.com/read/28212878/evaluation-of-macular-vascular-abnormalities-identified-by-optical-coherence-tomography-angiography-in-sickle-cell-disease
#1
Ian C Han, Mongkol Tadarati, Katia D Pacheco, Adrienne W Scott
PURPOSE: To evaluate macular vascular flow abnormalities identified by optical coherence tomography angiography (OCT-A) in patients with various sickle cell genotypes. DESIGN: Prospective, observational case series. METHODS: This is a single institution case series of adult patients with various sickle cell genotypes. All patients underwent macular OCT-A (Avanti RTVue XR, Optovue Inc, Fremont, CA). Images were analyzed qualitatively for areas of flow loss and quantitatively for measures of foveal avascular area, parafoveal flow, and vascular density...
February 14, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28210918/nutcracker-syndrome-and-sickle-cell-trait-a-perfect-storm-for-hematuria
#2
Amier Ahmad, Samuel K McElwee, Ryan R Kraemer
We describe the case of a 27-year-old woman with a history of sickle cell trait (SCT) who presented with several months of hematuria and was found to have nutcracker syndrome (NCS). While SCT is a common cause of hematuria resulting from renal papillary necrosis, our patient had concomitant abdominal pain and anemia, prompting further evaluation and the subsequent diagnosis of NCS. Interestingly, the anoxia in the left renal vein from NCS predisposes patients with SCT to sickling. Our case highlights key clinical features of both NCS and SCT and the relationship between the two disease processes...
February 16, 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/28203160/renal-medullary-carcinoma-with-an-aggressive-clinical-course-a-case-report-and-review-of-the-literature
#3
Madhumati R Kalavar, Sami Ali, Damoun Safarpour, Saroj Davi Kunnakkat
Renal medullary carcinoma (RMC) is a rare, yet aggressive malignancy of the kidney that is found predominantly in young patients with African descent and sickle cell hemoglobinopathies and most specifically sickle cell trait. Due to its aggressive nature, most cases have metastasis or local invasion at the time of diagnosis. Prognosis is extremely poor with survival less than 1 year after diagnosis. Here we present a case of metastatic RMC in a 29-year-old African female. Despite chemotherapy with cisplatin, gemcitabine, and paclitaxel, and initial shrinkage of the tumor, the patient died 5 months after diagnosis...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28185829/a-systematic-review-of-the-literature-for-severity-predictors-in-children-with-sickle-cell-anemia
#4
Emily Riehm Meier, Ross M Fasano, Paul R Levett
All patients with HbSS (SCA) share the same genetic mutation but the clinical phenotype is variable and difficult to predict early in life. A reliable severity predictor would be invaluable toward directing therapeutic decisions in those patients at highest risk of SCA complications. A search of PubMed, Cochrane Clinical Trials Register, and Scopus was performed to determine which SCA severity predictors have been validated in pediatric patients. The full text of 94 of the 590 references identified was reviewed based on the title/abstract...
February 2, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28181950/clinicopathologic-and-molecular-pathology-of-collecting-duct-carcinoma-and-related-renal-cell-carcinomas
#5
An Na Seo, Ghilsuk Yoon, Jae Y Ro
Collecting duct carcinoma (CDC) and related tumors [ie, renal medullary carcinoma (RMC)] are rare types of highly aggressive renal cell carcinomas (RCC) with poor prognosis. Because of the rarity and diagnostic uncertainty of them, their molecular pathology and significance have not yet been fully elucidated. CDC, RMC, fumarate hydratase-deficient RCC (including hereditary leiomyomatosis and RCC-associated RCC HLRCC-RCC), and recently reported anaplastic lymphoma kinase (ALK)-rearrangement RCC have significant morphologic overlaps, but they are separately distinct entities having different molecular pathway and clinical settings...
March 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28170479/association-of-sickle-cell-trait-with-hemoglobin-a1c-in-african-americans
#6
Mary E Lacy, Gregory A Wellenius, Anne E Sumner, Adolfo Correa, Mercedes R Carnethon, Robert I Liem, James G Wilson, David B Sacks, David R Jacobs, April P Carson, Xi Luo, Annie Gjelsvik, Alexander P Reiner, Rakhi P Naik, Simin Liu, Solomon K Musani, Charles B Eaton, Wen-Chih Wu
Importance: Hemoglobin A1c (HbA1c) reflects past glucose concentrations, but this relationship may differ between those with sickle cell trait (SCT) and those without it. Objective: To evaluate the association between SCT and HbA1c for given levels of fasting or 2-hour glucose levels among African Americans. Design, Setting, and Participants: Retrospective cohort study using data collected from 7938 participants in 2 community-based cohorts, the Coronary Artery Risk Development in Young Adults (CARDIA) study and the Jackson Heart Study (JHS)...
7, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28170462/sickle-cell-trait-and-interpretation-of-hemoglobin-a1c-levels
#7
EDITORIAL
Anthony J Bleyer, Joseph A Aloi
No abstract text is available yet for this article.
7, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28142190/sickle-cell-trait-is-associated-with-controlled-levels-of-heme-and-mild-pro-inflammatory-response-during-acute-malaria-infection
#8
Temitope W Ademolue, Olukemi K Amodu, Gordon A Awandare
The controlled induction of hemeoxygenase-1 (HO-1), an enzyme that catabolizes heme, has been shown to reduce heme, preventing pathologies associated with heme toxicity. The hemoglobin genotype HbAS confers reduced susceptibility to severe complications of malaria by a mechanism that is not well understood. Using a longitudinal approach, we investigated the effect of baseline concentrations of HO-1 on the accumulation of heme during acute Plasmodium falciparum malaria in HbAS and HbAA genotypes. Plasma concentrations of heme, HO-1, and cytokines were quantified in venous blood obtained from children (9 months-5 years of age) during malaria infection, and at convalescence (baseline levels)...
January 31, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28140625/ncaa-football-off-season-training-unanswered-prayers%C3%A2-a-prayer-answered
#9
Scott Anderson
Off-season training in year-round collegiate football is purported to be performance enhancing. Absent principles of exercise physiology, excesses in sport-training regimens pose risk to the participant athletes. Since 2000, 32 National Collegiate Athletic Association (NCAA) football players have died in sport: 26 nontraumatic deaths and 6 traumatic deaths, a ratio of more than 4 nontraumatic deaths for every traumatic death. On average, 2 NCAA football players die per season played. Best practices, consensus guidelines, and precautions are ignored, elevating the risk...
January 31, 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28122898/post-operative-avascular-necrosis-of-the-maxilla-a-rare-complication-following-orthognathic-surgery
#10
Trevor A Teemul, Jean Perfettini, David O Morris, John L Russell
We present a patient with sickle cell trait who suffered avascular necrosis of the maxilla as a complication of maxillary osteotomy. Understanding the blood supply of the maxilla and how possible patient related, anaesthetic and operative factors affect it, is important in understanding how the vascularity of the maxilla can become compromised in a surgical procedure. The perioperative parameters were analysed to identify any prognostic elements. Avascular necrosis of the maxilla is a rare complication of orthognathic surgery with few cases reported in the literature...
January 24, 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28115816/sickle-cell-trait-and-renal-function-in-hispanics-in-the-united-states-the-northern-manhattan-study
#11
Nicole D Dueker, David Della-Morte, Tatjana Rundek, Ralph L Sacco, Susan H Blanton
Sickle cell anemia (SCA) is a common hematological disorder among individuals of African descent in the United States; the disorder results in the production of abnormal hemoglobin. It is caused by homozygosity for a genetic mutation in HBB; rs334. While the presence of a single mutation (sickle cell trait, SCT) has long been considered a benign trait, recent research suggests that SCT is associated with renal dysfunction, including a decrease in estimated glomerular filtration rate (eGFR) and increased risk of chronic kidney disease (CKD) in African Americans...
January 19, 2017: Ethnicity & Disease
https://www.readbyqxmd.com/read/28110132/thromboelastographic-characterization-of-the-activated-clotting-system-in-children-with-sickle-cell-trait-or-sickle-cell-disease
#12
Shveta Gupta, Roxana Carmona, Jemily Malvar, Guy Young
BACKGROUND: Recent epidemiological evidence suggests sickle cell disease (SCD) and sickle cell trait (SCT) is a risk factor for venous thromboembolism. The increased in-vivo markers of thrombin generation support the notion that such patients are in a chronic hypercoagulable state. In an attempt to better understand the underlying mechanism, global hemostatic assays including thrombin generation assay (TGA) and thromboelastography (TEG) have been utilized by several groups, but thus far, have shown inconsistent results either due to small sample size or technical differences...
September 21, 2016: Thrombosis Research
https://www.readbyqxmd.com/read/28109314/sickle-cell-disease-and-pregnancy-outcomes-a-study-of-the-community-based-hospital-in-a-tribal-block-of-gujarat-india
#13
Gayatri Desai, Ankit Anand, Pankaj Shah, Shobha Shah, Kapilkumar Dave, Hardik Bhatt, Shrey Desai, Dhiren Modi
BACKGROUND: Sickle cell disease (SCD) is a hereditary blood disorder prevalent in tribal regions of India. SCD can increase complications during pregnancy and in turn negatively influence pregnancy outcomes. This study reports the analysis of tribal maternal admissions in the community-based hospital of SEWA Rural (Kasturba Maternity Hospital) in Jhagadia block, Gujarat. The objective of the study is to compare the pregnancy outcomes among SCD, sickle cell trait and non-SCD admissions...
January 21, 2017: Journal of Health, Population, and Nutrition
https://www.readbyqxmd.com/read/28105368/clinical-and-immunologic-correlates-of-response-to-pd-1-blockade-in-a-patient-with-metastatic-renal-medullary-carcinoma
#14
Kathryn E Beckermann, Pradeep C Jolly, Ju Y Kim, Jennifer Bordeaux, Igor Puzanov, W Kimryn Rathmell, Douglas B Johnson
BACKGROUND: Renal medullary carcinoma (RMC) is a rare kidney tumor that occurs in adolescent and young adults, typically in association with sickle cell trait. RMC exhibits rapid disease progression, frequent metastases at diagnosis, and dismal clinical outcomes. Currently available therapies, including cisplatin-based combination chemotherapy, multi-tyrosine kinase, and mTOR inhibitor strategies demonstrate either transient responses or minimal activity. Therefore, further molecular characterization and additional treatment strategies are urgently needed in this aggressive disease...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28102613/congolese-children-with-sickle-cell-trait-may-exhibit-glomerular-hyperfiltration-a-case-control-study
#15
Michel Ntetani Aloni, René Makwala Ngiyulu, Célestin Ndosimao Nsibu, Pépé Mfutu Ekulu, Jean Robert Makulo, Jean-Lambert Gini-Ehungu, Nazaire Mangani Nseka, François Bompeka Lepira
BACKGROUND: The prevalence of sickle cell trait is extremely high in sub-Saharan Africa. Recent studies have reported the impact of sickle cell carriers on renal function. However, data on renal abnormalities in children with sickle cell trait in this part of the world are unknown. In this report, we assess the glomerular function of children with sickle cell trait (SCT). METHODS: A case control study was conducted to assess the glomerular function in 43 Congolese children with sickle cell trait (Hb-AS) matched for age to 65 children with sickle cell anemia in steady state (Hb-SS) and 67 normal controls (Hb-AA)...
January 19, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28100178/a-retinopathy-in-young-patient-with-co-inheritance-of-heterozygous-alpha%C3%A2-%C3%A2-thalassemia-and-sickle-trait-a-case-report
#16
Zohra Ouzzif, Aissam El Maataoui, Zeinab Traore, Asmae Biaz, Samira El Machtani, Abdellah Dami, Sanae Bouhsain, Nezha Messaoudi, Fatiha Benchrifa
BACKGROUND: The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. CASE PRESENTATION: A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygous alpha thalassemia. His mother has Sickle cell anaemia (Hb SS) and his father is a carrier of heterozygous alpha-thalassemia status that it was unknown before...
January 18, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28096387/kinetic-assay-shows-that-increasing-red-cell-volume-could-be-a-treatment-for-sickle-cell-disease
#17
Quan Li, Eric R Henry, James Hofrichter, Jeffrey F Smith, Troy Cellmer, Emily B Dunkelberger, Belhu B Metaferia, Stacy Jones-Straehle, Sarah Boutom, Garrott W Christoph, Terri H Wakefield, Mary E Link, Dwayne Staton, Erica R Vass, Jeffery L Miller, Matthew M Hsieh, John F Tisdale, William A Eaton
Although it has been known for more than 60 years that the cause of sickle cell disease is polymerization of a hemoglobin mutant, hydroxyurea is the only drug approved for treatment by the US Food and Drug Administration. This drug, however, is only partially successful, and the discovery of additional drugs that inhibit fiber formation has been hampered by the lack of a sensitive and quantitative cellular assay. Here, we describe such a method in a 96-well plate format that is based on laser-induced polymerization in sickle trait cells and robust, automated image analysis to detect the precise time at which fibers distort ("sickle") the cells...
January 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28067730/observations-on-iron-anemia-and-sickle-cell-trait
#18
E Randy Eichner
No abstract text is available yet for this article.
January 2017: Current Sports Medicine Reports
https://www.readbyqxmd.com/read/28052565/cerebral-hemodynamics-and-pseudo-continuous-arterial-spin-labeling-considerations-in-adults-with-sickle-cell-anemia
#19
Meher R Juttukonda, Lori C Jordan, Melissa C Gindville, Larry T Davis, Jennifer M Watchmaker, Sumit Pruthi, Manus J Donahue
Sickle cell anemia (SCA) is a genetic disorder resulting in reduced oxygen carrying capacity and elevated stroke risk. Pseudo-continuous arterial spin labeling (pCASL) measures of cerebral blood flow (CBF) may have relevance for stroke risk assessment; however, the effects of elevated flow velocity and reduced bolus arrival time (BAT) on CBF quantification in SCA patients have not been thoroughly characterized, and pCASL model parameters used in healthy adults are often applied to patients with SCA. Here, cervical arterial flow velocities and pCASL labeling efficiencies were computed in adults with SCA (n = 19) and age- and race-matched controls without sickle trait (n = 7) using pCASL in sequence with phase contrast MR angiography (MRA)...
February 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/27998188/can-the-surgical-tourniquet-be-used-in-patients-with-sickle-cell-disease-or-trait-a-review-of-the-literature
#20
Marco Pignatti, Sara Zanella, Caterina Borgna-Pignatti
In patients with sickle cell disease, circulatory stasis, acidosis, and hypoxemia induce red cell deoxygenation and consequent sickling. Tourniquets are an important adjunct in limb surgery to obtain a bloodless field. Many local and systemic effects, due to the inflation and deflation of the tourniquet, can develop. These effects may have severe consequences if comorbidities are present. The use of a tourniquet in sickle cell patients is controversial because it may provoke vaso-occlusive complications. Areas covered:We reviewed the literature to detect reports of the use of tourniquet in sickle cell disease or sickle trait...
February 2017: Expert Review of Hematology
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