1,102 results match your criteria Sickle Cell Nephropathy


A systematic review for variables to be collected in a transplant database for improving risk prediction.

Transplantation 2019 Feb 6. Epub 2019 Feb 6.

Evidence-Based Practice Research Program, Mayo Clinic, MN, USA.

Background: This systematic review was commissioned to identify new variables associated with transplant outcomes that are not currently collected by the Organ Procurement and Transplantation Network (OPTN).

Methods: We identified 81 unique studies including 1,193,410 patients with median follow-up of 36 months posttransplant, reporting 108 unique risk factors.

Results: Most risk factors (104) were recipient-related; few (4) were donor-related. Read More

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http://dx.doi.org/10.1097/TP.0000000000002652DOI Listing
February 2019
1 Read

Similar burden of type 2 diabetes among adult patients with sickle cell disease relative to African Americans in the U.S. population: a six-year population-based cohort analysis.

Br J Haematol 2019 Feb 3. Epub 2019 Feb 3.

Center for Pharmacoepidemiology and Pharmacoeconomic Research, University of Illinois at Chicago, Chicago, IL, USA.

Conflicting evidence exists on the epidemiology of type 2 diabetes mellitus (T2DM) among patients with sickle cell disease (SCD). This study measured the prevalence, incidence and clinical outcomes associated with T2DM in a large US population of commercially-insured adults aged ≥20 years with SCD between 2009 and 2014. Among 7070 patients with SCD, the mean age (median) was 39 (37) years and 60·8% were female. Read More

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http://dx.doi.org/10.1111/bjh.15773DOI Listing
February 2019
2 Reads

Heritability of fetal hemoglobin, white cell count, and other clinical traits from a sickle cell disease family cohort.

Am J Hematol 2019 Jan 25. Epub 2019 Jan 25.

Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts.

Sickle cell disease (SCD) is the most common monogenic disorder in the world. Notably, there is extensive clinical heterogeneity in SCD that cannot be fully accounted for by known factors, and in particular, the extent to which the phenotypic diversity of SCD can be explained by genetic variation has not been reliably quantified. Here, in a family-based cohort of 449 patients with SCD and 755 relatives, we first show that 5 known modifiers affect 11 adverse outcomes in SCD to varying degrees. Read More

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http://doi.wiley.com/10.1002/ajh.25421
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http://dx.doi.org/10.1002/ajh.25421DOI Listing
January 2019
8 Reads

Oral manifestations of sickle cell disease.

Br Dent J 2019 Jan;226(1):27-31

Henri Mondor Hospital, Dental Department, Paris-Descartes University, Ile-de France, France.

Sickle cell disease is one of the most common autosomal recessive genetic diseases. It gives rise to abnormally shaped red blood cells with altered function, the primary clinical features being haemolytic anaemia and vascular occlusion. Acute complications are frequent and variable and include chest syndrome, stroke, infection mainly due to asplenia, bone pain and priapism. Read More

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http://www.nature.com/doifinder/10.1038/sj.bdj.2019.4
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http://dx.doi.org/10.1038/sj.bdj.2019.4DOI Listing
January 2019
12 Reads

Hyperfiltration during early childhood precedes albuminuria in pediatric sickle cell nephropathy.

Am J Hematol 2018 Dec 27. Epub 2018 Dec 27.

Division of Pediatric Nephrology, University of Alabama at Birmingham, Birmingham, Alabama.

Background: In patients with diabetes mellitus, hyperfiltration precedes the development of albuminuria. Pediatric sickle cell anemia (SCA) patients have a high prevalence of hyperfiltration and albuminuria during early childhood and adolescence. We tested the hypothesis that hyperfiltration precedes the development of albuminuria in a longitudinal pediatric SCA cohort. Read More

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http://dx.doi.org/10.1002/ajh.25390DOI Listing
December 2018
3 Reads

Voxelotor treatment of a patient with sickle cell disease and very severe anemia.

Am J Hematol 2018 Dec 27. Epub 2018 Dec 27.

Sickle Cell Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajh.25389DOI Listing
December 2018
3 Reads

Men's position in family care on situations of chronic illness.

Rev Esc Enferm USP 2018 Dec 10;52:e03398. Epub 2018 Dec 10.

Universidade Federal de Mato Grosso, Programa de Pós-Graduação em Saúde Coletiva, Cuiabá, MT, Brasil.

Objective: To understand the care by men in situations of chronic illness of one or more of his children, based on the dimensions of care.

Method: It was based on a comprehensive approach and on the (re)view of the database of the matrix research to which the study is linked, with emphasis on three experiences of illness, in which the men effectively participated in the family care: two children with sickle cell anemia; son with adrenoleukodystrophy and son with concomitant diseases (cancer and kidney disease).

Results: The analysis diagram of each family demonstrated different ways of caring, explaining the relationship between the dimensions of care by men: social; affective/relational and physical/circulation, as well as the reverberations between these dimensions in the care. Read More

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http://dx.doi.org/10.1590/S1980-220X2017046703398DOI Listing
December 2018

Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.

Case Rep Genet 2018 7;2018:6898546. Epub 2018 Nov 7.

Consortium for Health and Military Performance, Department of Military and Emergency Medicine, Hébert School of Medicine, Uniformed Services University, 4301 Jones Bridge Rd., Bethesda, MD 20184, USA.

Individuals with Sickle Cell Trait (SCT), generally considered a benign carrier state of hemoglobin S (HbAS), are thought to be at risk for exertional rhabdomyolysis and hematuria, conditions that can also be caused by various other acquired and inherited factors. We report an SCT positive service member with an exertional rhabdomyolysis event, recurrent hematuria with transient proteinuria, and episodic burning pain in the lower extremities. Clinical and genetic studies revealed the multifactorial nature of his complex phenotype. Read More

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http://dx.doi.org/10.1155/2018/6898546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247656PMC
November 2018
1 Read

The current state of sickle cell trait: implications for reproductive and genetic counseling.

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):474-481

Division of Hematology, Department of Medicine, Johns Hopkins University, Baltimore, MD.

Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. Read More

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http://dx.doi.org/10.1182/asheducation-2018.1.474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245976PMC
November 2018
2 Reads

Sickle Cell Nephropathy in the Pediatric Population.

Blood Purif 2018 Dec 5:1-9. Epub 2018 Dec 5.

Division of Nephrology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts,

Background: Compared to the past, patients with sickle cell disease (SCD) currently live longer due to improvements in diagnosis and comprehensive care. Due to these advances, long-term chronic complications pose a greater challenge in the management of patients with SCD. In particular, sickle cell nephropathy (SCN) is associated with significant morbidity and mortality across all age groups. Read More

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https://www.karger.com/Article/FullText/494581
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http://dx.doi.org/10.1159/000494581DOI Listing
December 2018
14 Reads

The current state of sickle-cell trait: implications for reproductive and genetic counseling.

Blood 2018 Nov 28. Epub 2018 Nov 28.

Division of Hematology, Department of Medicine, Johns Hopkins University, Baltimore, MD, United States

Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. Read More

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http://dx.doi.org/10.1182/blood-2018-06-848705DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6265653PMC
November 2018
1 Read

Effect of renin-angiotensin-aldosterone system blocking agents on progression of glomerulopathy in sickle cell disease.

Br J Haematol 2019 Jan 21;184(2):246-252. Epub 2018 Nov 21.

Center for Sickle Cell Disease, University of Tennessee Health Science Center, Memphis, TN, USA.

Although renin-angiotensin-aldosterone system (RAAS) blocking agents decrease albuminuria in short-term studies, there is no evidence confirming their long-term efficacy in sickle cell disease (SCD). In a single-centre, retrospective study, we evaluated the long-term effect of RAAS blocking agents on proteinuria and declining estimated glomerular filtration rates (eGFR). Eighty-six patients on RAAS blocking agents for proteinuria, followed for a median of 2·28 years, were compared with 68 patients with proteinuria followed for 2·24 years who were not receiving such treatment. Read More

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http://dx.doi.org/10.1111/bjh.15651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326862PMC
January 2019
6 Reads

Brief topical sodium nitrite and its impact on the quality of life in patients with sickle leg ulcers.

Medicine (Baltimore) 2018 Nov;97(46):e12614

Division of Hematology, Department of Oncology, Montefiore Medical Center, Bronx, NY, USA.

Cutaneous ulceration from sickle cell disease negatively impacts quality of life. Topical sodium nitrite has previously been shown to reduce the size of sickle leg ulcers. This study examined how topical sodium nitrite impacted the quality of life scores in patients with sickle leg ulcers. Read More

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http://dx.doi.org/10.1097/MD.0000000000012614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257663PMC
November 2018
8 Reads

Genetic Ancestry Markers and Difference in A1c Between African American and White in the Diabetes Prevention Program.

J Clin Endocrinol Metab 2019 Feb;104(2):328-336

Departments of Internal Medicine and Epidemiology, University of Michigan, Ann Arbor, Michigan.

Purpose: HbA1c levels are higher in blacks than non-Hispanic whites (NHWs). We investigated whether genetics could explain this difference in Diabetes Prevention Program (DPP) participants.

Methods: We tested (i) genetic variants causing hemoglobinopathies, (ii) a genetic risk score (GRS) based on 60 variants associated with HbA1c from genome-wide association meta-analysis, and (iii) principal component (PC) factors that capture continental ancestry derived from genetic markers distributed across the genome. Read More

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-01416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300069PMC
February 2019
10 Reads

APOL1-Associated Nephropathy: A Key Contributor to Racial Disparities in CKD.

Am J Kidney Dis 2018 Nov;72(5S1):S8-S16

Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD. Electronic address:

Genetic methodologies are improving our understanding of the pathophysiology in diverse diseases. Breakthroughs have been particularly impressive in nephrology, for which marked disparities exist in rates and etiologic classifications of end-stage kidney disease between African Americans and European Americans. Discovery of the apolipoprotein L1 gene (APOL1) association with focal segmental glomerulosclerosis, human immunodeficiency virus (HIV)-associated nephropathy, lupus nephritis, sickle cell nephropathy, and solidified glomerulosclerosis, as well as more rapid failure of transplanted kidneys from donors with APOL1 renal-risk genotypes, has improved our understanding of nondiabetic nephropathy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S02726386183082
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http://dx.doi.org/10.1053/j.ajkd.2018.06.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200346PMC
November 2018
22 Reads

Increased Prevalence of Type 2 Diabetes-Related Complications in Combined Type 2 Diabetes and Sickle Cell Trait.

Diabetes Care 2018 12 16;41(12):2595-2602. Epub 2018 Oct 16.

Inter-university Laboratory of Biology of Motor Function EA7424, Vascular Biology and the Red Blood Cell Team, Claude Bernard University Lyon 1, University de Lyon 1, Villeurbanne, France

Objective: The prevalence of type 2 diabetes (T2D) is rapidly increasing in sub-Saharan Africa, where sickle cell trait (SCT) is also frequent. Although SCT is generally considered a benign condition, evidence suggests that SCT could exaggerate vascular dysfunction in T2D. However, it remains unclear whether SCT could increase the risk of the development of T2D complications. Read More

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http://dx.doi.org/10.2337/dc18-1289DOI Listing
December 2018
2 Reads

Robust erythroid differentiation system for rhesus hematopoietic progenitor cells allowing preclinical screening of genetic treatment strategies for the hemoglobinopathies.

Cytotherapy 2018 Oct 22;20(10):1278-1287. Epub 2018 Sep 22.

Sickle Cell Branch, National Heart Lung and Blood Institutes/National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.

Background Aims: γ-globin expression can be induced by various gene modification strategies, which could be beneficial for hemoglobin (Hb) disorders. To translate promising ideas into clinics, large animal models have proven valuable to evaluate safety and efficacy of the approaches; however, in vitro erythroid differentiation methods have not been established to determine whether they can be modeled in nonhuman primates.

Methods: We optimized erythroid differentiation culture to produce high-level adult Hb from rhesus hematopoietic progenitor cells by using low (LC) or high cytokine concentration (HC) protocols with or without feeder cells. Read More

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http://dx.doi.org/10.1016/j.jcyt.2018.07.002DOI Listing
October 2018
12 Reads

Theoretical Simulation of Red Cell Sickling Upon Deoxygenation Based on the Physical Chemistry of Sickle Hemoglobin Fiber Formation.

J Phys Chem B 2018 Sep 18. Epub 2018 Sep 18.

Laboratory of Chemical Physics, National Institute of Diabetes, Digestive and Kidney Diseases , National Institutes of Health , Bethesda , Maryland 20892 , United States.

The polymerization of the mutant hemoglobin S upon deoxygenation to form fibers in red blood cells of patients suffering from sickle-cell anemia results in changes in cell shape and rigidity, also known as sickling, which underlie the pathology of the disease. While much has been learned about the fundamental physical chemistry of the polymerization process, transferring these insights to sickling of red cells under in vivo conditions requires being able to monitor, and ultimately predict, the time course of cellular sickling under physiological conditions of deoxygenation. To this end, we have developed an experimental technique for tracking the temporal evolution of the sickling of red blood cells under laboratory deoxygenation conditions, based on the automated analysis of sequences of microscope images and machine-learning analysis to characterize cell morphology. Read More

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http://pubs.acs.org/doi/10.1021/acs.jpcb.8b07638
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http://dx.doi.org/10.1021/acs.jpcb.8b07638DOI Listing
September 2018
16 Reads

Combined hydroxyurea and ET receptor blockade reduces renal injury in the humanized sickle cell mouse.

Acta Physiol (Oxf) 2019 Feb 20;225(2):e13178. Epub 2018 Sep 20.

Section of Cardio-Renal Physiology and Medicine, Division of Nephrology, Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama.

Aim: The objective of this study is to determine if ambrisentan (ET selective antagonist) and hydroxyurea (HU) treatment has a synergistic effect on renal injury in sickle cell nephropathy when compared to HU treatment alone. The premise of the study is based on recent studies showing that endothelin-1 (ET-1) contributes to the pathophysiology of nephropathy in sickle cell disease (SCD) and that ET receptor blockade improves renal function and protects against renal injury. Hydroxyurea (HU) is commonly prescribed for the treatment of SCD and has been shown to reduce renal injury in patients with SCD. Read More

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http://dx.doi.org/10.1111/apha.13178DOI Listing
February 2019
16 Reads

Clinical and metabolomic risk factors associated with rapid renal function decline in sickle cell disease.

Am J Hematol 2018 Dec 27;93(12):1451-1460. Epub 2018 Sep 27.

Department of Medicine, Division of Hematology and Duke Comprehensive Sickle Cell Center, Duke University Medical Center, Durham, North Carolina.

Sickle cell disease (SCD) nephropathy and lower estimated glomerular filtration rate (eGFR) are risk factors for early mortality. Furthermore, rate of eGFR decline predicts progression to end-stage renal disease in many clinical settings. However, factors predicting renal function decline in SCD are poorly documented. Read More

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http://dx.doi.org/10.1002/ajh.25263DOI Listing
December 2018
17 Reads

Low urinary levels of angiotensin-converting enzyme 2 may contribute to albuminuria in children with sickle cell anaemia.

Br J Haematol 2018 Jul 5. Epub 2018 Jul 5.

Laboratório Interdisciplinar de Investigação Médica, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.

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http://dx.doi.org/10.1111/bjh.15439DOI Listing
July 2018
4 Reads

Intravascular hemolysis activates complement via cell-free heme and heme-loaded microvesicles.

JCI Insight 2018 Jun 21;3(12). Epub 2018 Jun 21.

INSERM, UMRS 1138, Centre de Recherche des Cordeliers, Paris, France.

In hemolytic diseases, such as sickle cell disease (SCD), intravascular hemolysis results in the release of hemoglobin, heme, and heme-loaded membrane microvesicles in the bloodstream. Intravascular hemolysis is thus associated with inflammation and organ injury. Complement system can be activated by heme in vitro. Read More

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https://insight.jci.org/articles/view/96910
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http://dx.doi.org/10.1172/jci.insight.96910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6124427PMC
June 2018
10 Reads

Fat Emboli Syndrome.

Del Med J 2017 May;89(5):148-150

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May 2017
4 Reads

Association Between Sickle Cell Trait With Selected Chronic Medical Conditions in U.S. Service Members.

Mil Med 2018 Nov;183(11-12):e735-e740

Department of Preventive Medicine and Biostatistics, Uniformed Services of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD.

Introduction: Sickle cell trait (SCT), the heterozygous carrier state for hemoglobin S, is present in an estimated 1.6% of all newborns and 7.3% in black individuals in the USA. Read More

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http://dx.doi.org/10.1093/milmed/usy125DOI Listing
November 2018
4 Reads

Nontraumatic Exertional Rhabdomyolysis Leading to Acute Kidney Injury in a Sickle Trait Positive Individual on Renal Biopsy.

Case Rep Nephrol 2018 15;2018:5841216. Epub 2018 Apr 15.

Department of Nephrology, Maimonides Medical Center, Brooklyn, NY, USA.

A 26-year-old African American male with a history of congenital cerebral palsy, sickle cell trait, and intellectual disability presented with abdominal pain that started four hours prior to the hospital visit. The patient denied fever, chills, diarrhea, or any localized trauma. The patient was at a party at his community center last evening and danced for 2 hours, physically exerting himself more than usual. Read More

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http://dx.doi.org/10.1155/2018/5841216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925017PMC
April 2018
7 Reads

Renal Cell Carcinoma, Unclassified with Medullary Phenotype and Synchronous Renal Clear Cell Carcinoma Present in a Patient with No Sickle Cell Trait/Disease: Diagnostic and Therapeutic Challenges.

Anticancer Res 2018 Jun;38(6):3757-3761

Department of Pathology and Immunology, School of Medicine, Washington University in Saint Louis, St. Louis, MO, U.S.A.

Renal medullary carcinoma (RMC) is an aggressive high-grade renal cell carcinoma (RCC) associated almost exclusively with sickle cell trait or sickle cell disease. However, RCC with RMC features has rarely been reported in patients with no sickle cell trait or disease. Renal cell carcinoma unclassified with medullary phenotype (RCCU-MP) is a newly-coined term used by an international panel of experts to describe renal cell carcinoma showing morphologic and immunohistochemical features of renal medullary carcinoma in patients without sickle cell trait/disease. Read More

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http://dx.doi.org/10.21873/anticanres.12657DOI Listing
June 2018
4 Reads

Serum-free Erythroid Differentiation for Efficient Genetic Modification and High-Level Adult Hemoglobin Production.

Mol Ther Methods Clin Dev 2018 Jun 22;9:247-256. Epub 2018 Mar 22.

Sickle Cell Branch, National Heart Lung and Blood Institutes (NHLBI)/National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.

erythroid differentiation from primary human cells is valuable to develop genetic strategies for hemoglobin disorders. However, current erythroid differentiation methods are encumbered by modest transduction rates and high baseline fetal hemoglobin production. In this study, we sought to improve both genetic modification and hemoglobin production among human erythroid cells . Read More

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http://dx.doi.org/10.1016/j.omtm.2018.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5948232PMC
June 2018
2 Reads

Association of Sickle Cell Trait With Ischemic Stroke Among African Americans: A Meta-analysis.

JAMA Neurol 2018 Jul;75(7):802-807

Department of Medicine, Larner College of Medicine at the University of Vermont, Burlington.

Importance: African Americans and individuals of African ancestry have a higher risk of stroke compared with non-Hispanic white individuals. Identifying the source of this disparity could provide an opportunity for clinical stroke risk stratification and more targeted therapy. Whether sickle cell trait (SCT) is an indicator of increased risk of ischemic stroke among African Americans is still unclear. Read More

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http://dx.doi.org/10.1001/jamaneurol.2018.0571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145767PMC
July 2018
12 Reads

Prevalence of Microalbuminuria in Adult Patients with Sickle Cell Disease in Eastern Saudi Arabia.

Int J Nephrol 2018 27;2018:5015764. Epub 2018 Feb 27.

Royal College of Surgeons in Ireland, Dublin, Ireland.

Background: Proteinuria is a common feature of sickle cell nephropathy (SCN) that can progress to renal insufficiency and end stage renal disease. Microalbuminuria (MA) is the earliest manifestation of SCN and precedes the development of overt proteinuria. In addition to the renal consequences, MA is linked to cardiovascular complications. Read More

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http://dx.doi.org/10.1155/2018/5015764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5848055PMC
February 2018
5 Reads

Inflammation in sickle cell disease.

Clin Hemorheol Microcirc 2018 ;68(2-3):263-299

Department of Medicine, Division of Hematology, Oncology and Transplantation, Vascular Biology Center, University of Minnesota, Minneapolis, MN, USA.

The primary β-globin gene mutation that causes sickle cell disease (SCD) has significant pathophysiological consequences that result in hemolytic events and the induction of the inflammatory processes that ultimately lead to vaso-occlusion. In addition to their role in the initiation of the acute painful vaso-occlusive episodes that are characteristic of SCD, inflammatory processes are also key components of many of the complications of the disease including autosplenectomy, acute chest syndrome, pulmonary hypertension, leg ulcers, nephropathy and stroke. We, herein, discuss the events that trigger inflammation in the disease, as well as the mechanisms, inflammatory molecules and cells that propagate these inflammatory processes. Read More

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http://dx.doi.org/10.3233/CH-189012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314308PMC
May 2018
4 Reads

Vascular complications of sickle cell disease.

Clin Hemorheol Microcirc 2018 ;68(2-3):205-221

Department of Medicine, Division of Pulmonary, Critical Care, Sleep, and Occupational Medicine, Indiana University, Indianapolis, IN, USA.

Sickle cell disease (SCD) is a monogenetic disorder caused by a mutation in the β-globin gene HBB leading to polymerization of red blood cells causing damage to cell membranes, increasing its rigidity and intravascular hemolysis. Multiple lines of evidence suggest that SCD can be viewed as pan-vasculopathy associated with multiple mechanisms but driven by hemoglobin S polymerization. Here we review the pathophysiology, clinical manifestations and management strategies for cerebrovascular disease, pulmonary hypertension and renal disease associated with SCD. Read More

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http://dx.doi.org/10.3233/CH-189008DOI Listing
May 2018
5 Reads

Genetic modifiers of severity in sickle cell disease.

Clin Hemorheol Microcirc 2018 ;68(2-3):147-164

Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, TX, USA.

Sickle cell disease (SCD) is one of the most common single disease disorders world-wide. It is remarkable for its clinical heterogeneity, even among individuals with identical genotypes. Some individuals experience morbidity and mortality in early childhood, while others have a relatively mild course, and normal or near normal life expectancy. Read More

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http://dx.doi.org/10.3233/CH-189004DOI Listing
May 2018
5 Reads

The Burden of Indirect Causes of Maternal Morbidity and Mortality in the Process of Obstetric Transition: A Cross-Sectional Multicenter Study.

Rev Bras Ginecol Obstet 2018 Mar 2;40(3):106-114. Epub 2018 Apr 2.

Department of Obsterics and Gynecology, School of Medical Science, Universidade Estadual de Campinas, Campinas, São Paulo, SP, Brazil.

Objective:  The aim of this study is to evaluate the burden of indirect causes of maternal morbidity/mortality in Brazil.

Methods:  Secondary analysis of a multicenter cross-sectional study conducted in 27 referral obstetric units within the Brazilian Network for Surveillance of Severe Maternal Morbidity.

Results:  A total of 82,388 women were surveilled: 9,555 women with severe maternal morbidity were included, and 942 (9. Read More

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http://dx.doi.org/10.1055/s-0038-1623511DOI Listing
March 2018
5 Reads

Sickle Cell Disease is Associated With Elevated Levels of Skin Advanced Glycation Endproducts.

J Pediatr Hematol Oncol 2018 May;40(4):285-289

Departments of Pediatric Endocrinology and Diabetes.

Sickle cell disease (SCD) is associated with increased oxidative stress which potentially enhances generation of advanced glycation endproducts (AGEs). We estimated skin accumulation of AGEs in SCD patients and assessed their relationship with hemolysis and nephropathy. Skin intrinsic fluorescence (SIF), an estimate of AGEs, was assessed in African American patients with and without SCD. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001128DOI Listing
May 2018
6 Reads

Renal protection by atorvastatin in a murine model of sickle cell nephropathy.

Br J Haematol 2018 04 12;181(1):111-121. Epub 2018 Mar 12.

Aflac Cancer and Blood Disorder Center, Emory University School of Medicine and Children's Healthcare of Atlanta, Atlanta, GA, USA.

Recent studies have demonstrated pleiotropic effects of statins in various mouse models of kidney disease. In this study, Townes humanized sickle cell mice were treated for 8 weeks with atorvastatin at a dose of 10 mg/kg/day starting at 10 weeks of age. Treatment with atorvastatin significantly reduced albuminuria, and improved both urine concentrating ability and glomerular filtration rate. Read More

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http://dx.doi.org/10.1111/bjh.15157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869131PMC
April 2018
6 Reads

High-level embryonic globin production with efficient erythroid differentiation from a K562 erythroleukemia cell line.

Exp Hematol 2018 06 7;62:7-16.e1. Epub 2018 Mar 7.

Sickle Cell Branch, National Heart Lung and Blood Institute/National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.

A reliable cell line capable of robust in vitro erythroid differentiation would be useful to investigate red blood cell (RBC) biology and genetic strategies for RBC diseases. K562 cells are widely utilized for erythroid differentiation; however, current differentiation methods are insufficient to analyze globin proteins. In this study, we sought to improve erythroid differentiation from K562 cells to enable protein-level globin analysis. Read More

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http://dx.doi.org/10.1016/j.exphem.2018.02.007DOI Listing
June 2018
10 Reads

Chronic Administration of Hydroxyurea (HU) Benefits Caucasian Patients with Sickle-Beta Thalassemia.

Int J Mol Sci 2018 Feb 28;19(3). Epub 2018 Feb 28.

Campus of Haematology Franco and Piera Cutino, AOOR Villa Sofia-V. Cervello, 90142 Palermo, Italy.

In sickle cell disease (SCD), hydroxyurea (HU) treatment decreases the number of vaso-occlusive crisis (VOC) and acute chest syndrome (ACS) by increasing fetal hemoglobin (HbF). Data are lacking regarding the frequency of HU dose modification or whether sub-therapeutic doses (<15 mg/kg/day) are beneficial. We reviewed the medical records of 140 patients from 2010 to 2014. Read More

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http://dx.doi.org/10.3390/ijms19030681DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877542PMC
February 2018
10 Reads

Nephrin as a biomarker of sickle cell glomerulopathy in Malawi.

Pediatr Blood Cancer 2018 Jun 7;65(6):e26993. Epub 2018 Feb 7.

Division of Hematology/Oncology, University of North Carolina, Chapel Hill, North Carolina.

Background: Glomerulopathy is an increasingly identified complication in young patients with sickle cell disease (SCD). Hyperfiltration and albuminuria followed by declining glomerular filtration rates and eventual end-stage renal disease (ESRD) is assumed to be the typical progression of glomerular disease. There are only a few reported biomarkers to identify early-stage renal disease in SCD. Read More

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http://dx.doi.org/10.1002/pbc.26993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911184PMC
June 2018
5 Reads

Genetic risk of APOL1 and kidney disease in children and young adults of African ancestry.

Curr Opin Pediatr 2018 04;30(2):252-259

Departments of Pediatrics and Medicine, Hospital for Sick Children, University Health Network and University of Toronto, Toronto, Ontario, Canada.

Purpose Of Review: Understanding the genetic risk of APOL1 in children and young adults is important given the lifetime risk of hypertension and kidney disease among children of African descent. We review recent epidemiologic and biologic findings on the effects of APOL1 and kidney disease.

Recent Findings: APOL1 in children and young adults is associated with hypertension, albuminuria and more rapid decline in kidney function and progression to end-stage kidney disease, especially among those with glomerular causes of kidney disease, and those affected by sickle cell disease or HIV. Read More

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http://dx.doi.org/10.1097/MOP.0000000000000603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002812PMC
April 2018
3 Reads

ALK-TPM3 rearrangement in adult renal cell carcinoma: Report of a new case showing loss of chromosome 3 and literature review.

Cancer Genet 2018 02 12;221:31-37. Epub 2017 Dec 12.

Laboratory of Solid Tumor Genetics, Institute for Research on Cancer and Aging of Nice (IRCAN), CNRS UMR 7284/INSERM U1081, Nice, France; Laboratory of Solid Tumor Genetics, University Hospital of Nice-Côte d'Azur University, Nice, France. Electronic address:

Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization's classification (2016), in a group of emerging/provisional RCC. The first three cases were pediatric, medullary-based, associated with sickle-cell trait and showed a fusion of ALK with VCL. Thirteen cases have been further described. Read More

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http://dx.doi.org/10.1016/j.cancergen.2017.11.010DOI Listing
February 2018
11 Reads

Is acute kidney injury a harbinger for chronic kidney disease?

Curr Opin Pediatr 2018 04;30(2):236-240

Division of Nephrology, Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA.

Purpose Of Review: Despite abundant evidence in adults, the relationship between acute kidney injury (AKI) and chronic kidney disease (CKD) remains unanswered in pediatrics. Obstacles to overcome include the challenges defining these entities and the lack of long-term follow-up studies. This review focuses on pediatric populations at high-risk for AKI, the evidence of the long-term effect of AKI on renal health, and biomarkers to detect renal disease. Read More

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http://dx.doi.org/10.1097/MOP.0000000000000587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897901PMC
April 2018
4 Reads

Posterior reversible encephalopathy syndrome secondary to asymptomatic poststreptococcal glomerulonephritis in a child with sickle cell anemia: a case report.

J Med Case Rep 2018 Feb 1;12(1):24. Epub 2018 Feb 1.

Prince Sultan Oncology Center, King Salman Armed Forces Hospital, Tabuk, 100, Kingdom of Saudi Arabia.

Background: Posterior reversible encephalopathy syndrome is a neurotoxic condition that occurs as a result of the failure of posterior circulatory autoregulation in response to acute changes in blood pressure. Overperfusion with resultant disruption of the blood-brain barrier results in vasogenic edema, but not infarction. Posterior reversible encephalopathy syndrome can be the presenting feature of postinfectious glomerulonephritis, which has been reported in approximately 5% of hospitalized children, and it has been reported in very few cases of adult patients with sickle cell anemia. Read More

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http://dx.doi.org/10.1186/s13256-017-1559-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793438PMC
February 2018
7 Reads

Sickle cell nephropathy: an update on pathophysiology, diagnosis, and treatment.

Int Urol Nephrol 2018 Jun 30;50(6):1075-1083. Epub 2018 Jan 30.

Lebanese American University School of Medicine, Byblos, Lebanon.

Sickle cell nephropathy is a major complication of sickle cell disease. It manifests in different forms, including glomerulopathy, proteinuria, hematuria, and tubular defects, and frequently results in end-stage renal disease (ESRD). Different pathophysiologic mechanisms have been proposed to explain the development of nephropathy in SCD, where hemolysis and vascular occlusion are the main contributors in the manifestations of this disease. Read More

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http://dx.doi.org/10.1007/s11255-018-1803-3DOI Listing
June 2018
5 Reads
1.293 Impact Factor

Measuring Deformability and Red Cell Heterogeneity in Blood by Ektacytometry.

J Vis Exp 2018 01 12(131). Epub 2018 Jan 12.

Molecular and Clinical Nutrition Section, Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases.

Decreased red cell deformability is characteristic of several disorders. In some cases, the extent of defective deformability can predict severity of disease or occurrence of serious complications. Ektacytometry uses laser diffraction viscometry to measure the deformability of red blood cells subject to either increasing shear stress or an osmotic gradient at a constant value of applied shear stress. Read More

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http://dx.doi.org/10.3791/56910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908551PMC
January 2018
9 Reads

Diffusion tensor imaging MRI of sickle cell kidney disease: initial results and comparison with iron deposition.

NMR Biomed 2018 03 19;31(3). Epub 2018 Jan 19.

Department of Radiology, Case Western Reserve University, Cleveland, OH, USA.

Chronic kidney disease (CKD) occurs in over one-third of patients with sickle cell disease (SCD) and can progress to end-stage renal disease. Unfortunately, current clinical assessments of kidney function are insensitive to early-stage CKD. Previous studies have shown that diffusion magnetic resonance imaging (MRI) can sensitively detect regional renal microstructural changes associated with early-stage CKD. Read More

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http://dx.doi.org/10.1002/nbm.3883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5822685PMC
March 2018
3 Reads

[Screening for nephropathy in major sickle cell syndromes in patients monitored at the National Reference Center for Sickle Cell Disease in Niamey, Niger].

Nephrol Ther 2018 Nov 5;14(6):462-466. Epub 2018 Jan 5.

Service de pédiatrie, hôpital national Lamordé, BP 10896, rue 002 Université, Com V, Niamey, Niger.

Background: Sickle cell anemia is the most common hereditary hemopathy in the world. It is a disease that attacks all the systems of the organism. The kidneys are among the most sensitive organs of this disease. Read More

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http://dx.doi.org/10.1016/j.nephro.2017.11.002DOI Listing
November 2018
8 Reads

Cyclophosphamide improves engraftment in patients with SCD and severe organ damage who undergo haploidentical PBSCT.

Blood Adv 2017 Apr 19;1(11):652-661. Epub 2017 Apr 19.

Molecular and Clinical Hematology Branch, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and NHLBI.

Peripheral blood stem cell transplantation (PBSCT) offers a curative option for sickle cell disease (SCD). Although HLA-matched sibling transplantation is promising, the vast majority of patients lack such a donor. We sought to develop a novel nonmyeloablative HLA-haploidentical PBSCT approach that could safely be used for patients with severe organ damage. Read More

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http://dx.doi.org/10.1182/bloodadvances.2016002972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727815PMC
April 2017
13 Reads