Search Our Scientific Publications & Authors

CEN Case Rep 2020 Jul 3. Epub 2020 Jul 3.

Department of Pediatric Nephrology, School of Medicine, Tokyo Women's Medical University, 8-1, Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan.

Parvovirus B19 (PVB19) has been known to cause acute glomerulonephritis and nephrotic syndrome with various renal histologic patterns, such as endocapillary glomerulonephritis and collapsing glomerulopathy. Remission is achieved spontaneously or by treatment with steroid and/or immunosuppressants in most patients, except those with sickle cell anemia or two APOL1 risk alleles. In this study, we report the case of a previously healthy 5-year-old boy with infection-related glomerulonephritis (IRGN) associated with PVB19 that progressed to end-stage renal disease (ESRD). Read More

Clin Infect Dis 2020 Jul 2. Epub 2020 Jul 2.

Centers for Disease Control and Prevention - Infectious Diseases Pathology Branch, Atlanta, Georgia, United States of America.

Background: Death in patients with chikungunya is rare, and has been associated with encephalitis, hemorrhage, and septic shock. We describe clinical, histologic and immunohistochemical findings in individuals who died following chikungunya virus (CHIKV) infection.

Methods: We identified individuals who died in Puerto Rico during 2014 following an acute illness, and had CHIKV RNA detected by RT-PCR in a pre- or post-mortem blood or tissue specimen. Read More

J Thromb Haemost 2020 Jun 23. Epub 2020 Jun 23.

UNC Blood Research Center, Division of Hematology & Oncology, Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.

Background: Sickle cell disease (SCD) is characterized by chronic hemolytic anemia, vaso-occlusive crises, chronic inflammation, and activation of coagulation. The clinical complications such as painful crisis, stroke, pulmonary hypertension, nephropathy and venous thromboembolism lead to cumulative organ damage and premature death. High molecular weight kininogen (HK) is a central cofactor for the kallikrein-kinin and intrinsic coagulation pathways, which contributes to both coagulation and inflammation. Read More

Proc Natl Acad Sci U S A 2020 Jun 11;117(26):15018-15027. Epub 2020 Jun 11.

Laboratory of Chemical Physics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-0520;

The pathology of sickle cell disease is caused by polymerization of the abnormal hemoglobin S upon deoxygenation in the tissues to form fibers in red cells, causing them to deform and occlude the circulation. Drugs that allosterically shift the quaternary equilibrium from the polymerizing T quaternary structure to the nonpolymerizing R quaternary structure are now being developed. Here we update our understanding on the allosteric control of fiber formation at equilibrium by showing how the simplest extension of the classic quaternary two-state allosteric model of Monod, Wyman, and Changeux to include tertiary conformational changes provides a better quantitative description. Read More

Blood 2020 Jun 9. Epub 2020 Jun 9.

Medical College of Wisconsin, Milwaukee, Wisconsin, United States.

We developed a risk score to predict event-free survival (EFS; the probability of being alive with donor engraftment) after allogeneic hematopoietic cell transplantation for sickle cell disease. The study population (n=1425) was randomly split into training (n=1070) and validation (n=355) cohorts. Cox regression models were built to identify and validate risk factors. Read More

Hematol Transfus Cell Ther 2020 May 16. Epub 2020 May 16.

Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM/UNICAMP), Campinas, SP, Brazil. Electronic address:

Introduction: Mutations affecting genes involved in oxidative and signaling pathways may be associated with kidney disease in sickle cell anemia. We determined the allele and genotype frequencies of some polymorphisms in the promoter regions of the Heme Oxygenase-1 (HMOX1) [rs2071746 (A>T) and (GT)n repeats, short (S) and long (L) alleles] and Bone Morphogenetic Protein Receptor type-1B (BMPR1B) [rs17022863 (A>G), rs4331783 (A>G) and rs1470409 (A>G)] genes in 75 adult patients with sickle cell anemia and 160 healthy controls and investigated whether these polymorphisms may influence the estimated glomerular filtration rate for the patients.

Methods: The single nucleotide polymorphisms were genotyped using the TaqMan assays, the HMOX1(GT)n repeats were determined by polymerase chain reaction fragment size analysis and the estimated glomerular filtration rate was calculated by the Modification of Diet in Renal Disease formula. Read More

Acta Biomed 2020 05 11;91(2):216-217. Epub 2020 May 11.

Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy.

For rare haematological diseases (RHD), the first question to be answered is if patients with be- nign red blood cell (RBC) defects like haemoglobinopathies, membranopathies and enzymopathies are more vulnerable to COVID-19 infection. Up to now, there is no yet literature on the subject, but, like in general population, the presence of comorbidities such as diabetes, heart disease, pulmonary hypertension, reduced kidney and/or liver function, worsen the effects of the infection. Splenectomy may be an additional risk factor. Read More

Mol Ther Methods Clin Dev 2020 Jun 18;17:912-921. Epub 2020 Apr 18.

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

Lentiviral addition of βT87Q-globin, a modified β-globin with an anti-sickling mutation, is currently being used in gene therapy trials for sickle cell disease (SCD) and β-thalassemia patients. βT87Q-globin interferes with sickle hemoglobin (HbS) polymerization. Here, we generated the SCD mutation in an immortalized human erythroid cell line (HUDEP-2) to investigate the anti-sickling activity of βT87Q-globin. Read More

Blood Adv 2020 Apr;4(7):1501-1511

Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.

Sickle cell nephropathy results in chronic kidney disease (CKD), which is associated with significant morbidity and mortality in sickle cell anemia (SCA). Albuminuria is an early manifestation of sickle nephropathy; however, little is known about progression of albuminuria or its correlation with glomerular filtration rate (GFR) decline or CKD. We studied nephropathy progression in 303 SCA participants in a prospective, multicenter, longitudinal study. Read More

Pediatr Nephrol 2020 Apr 6. Epub 2020 Apr 6.

Department of Pediatric Nephrology & Department of Development and Regeneration, University Hospital Leuven, KU Leuven, Leuven, Belgium.

Individuals of African origin have an increased risk of developing various progressive chronic kidney diseases (CKD). This risk has been attributed to genetic variants (G1, G2) in apolipoprotein-L1 (APOL1) gene. In the pediatric population, especially in children affected by sickle cell disease (SCD), by human immunodeficiency virus (HIV), or with various glomerular diseases, APOL1 risk variants have been associated with the development of hypertension, albuminuria, and more rapid decline of kidney function. Read More

PLoS One 2020 3;15(4):e0229959. Epub 2020 Apr 3.

School of Medicine, University of California, San Francisco, San Francisco, CA, United States of America.

Sickle cell disease (SCD) is characterized by deoxygenation-induced polymerization of hemoglobin in red blood cells, leading to hemolytic anemia, vaso-occlusion, and the development of multiple clinical complications. To characterize the clinical burden associated with differences in hemoglobin concentration and hemolysis measures, a systematic literature review of MEDLINE, EMBASE, and related meta-analyses was undertaken. For quantitative analyses related to hemoglobin concentration, pooled results were analyzed using random effects models to control for within-and between-study variability. Read More

Adolesc Health Med Ther 2020 11;11:29-38. Epub 2020 Mar 11.

College of Medicine University of Nigeria, University of Nigeria Teaching Hospital, Ituku Ozalla, Enugu, Nigeria.

Introduction: When a child reaches a certain age, he or she moves over to the adult physician. For this to maximally benefit the child, there has to be a process of equipping the child with skills required for taking on more responsibilities. Transitioning involves a process in which the adolescent with chronic illness is prepared ahead of time to enable them to eventually transfer to adult care with good outcomes. Read More

Science 2020 03;367(6483):1198-1199

Laboratory of Chemical Physics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

Mol Ther Methods Clin Dev 2020 Jun 31;17:429-440. Epub 2020 Jan 31.

Department of Medical Microbiology, Immunology and Cell Biology, Southern Illinois University School of Medicine, Springfield, IL 62702, USA.

Sickle cell disease (SCD) and β-thalassemia are caused by structural abnormality or inadequate production of adult hemoglobin (HbA, αβ), respectively. Individuals with either disorder are asymptomatic before birth because fetal hemoglobin (HbF, αγ) is unaffected. Thus, reversal of the switch from HbF to HbA could reduce or even prevent symptoms these disorders. Read More

Viruses 2020 Mar 1;12(3). Epub 2020 Mar 1.

Department of Microbiology, College of Medicine, Howard University, Washington, DC20059, USA.

While antiretroviral therapy increases the longevity of people living with HIV (PLWH), about 30% of this population suffers from three or more concurrent comorbidities, whose mechanisms are not well understood. Chronic activation and dysfunction of the immune system could be one potential cause of these comorbidities. We recently demonstrated reduced macrophage infiltration and delayed resolution of inflammation in the lungs of HIV-transgenic mice. Read More

Yonsei Med J 2020 Mar;61(3):262-266

Department of Pathology, Chungbuk National University Hospital, Cheongju, Korea.

The World Health Organization 2016 edition assigned anaplastic lymphoma kinase () rearrangement-associated renal cell carcinoma (ALK-RCC) as an emerging renal tumor entity. Identifying ALK-RCC is important because ALK inhibitors have been shown to be effective in treatment. Here, we report the case of a 14-year-old young man with ALK-RCC. Read More

Stem Cells Transl Med 2020 May 7;9(5):590-602. Epub 2020 Feb 7.

Cellular and Molecular Therapeutics Branch, National Heart Lung and Blood Institutes (NHLBI)/National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH), Bethesda, Maryland.

New technologies of induced pluripotent stem cells (iPSCs) and genome editing have emerged, allowing for the development of autologous transfusion therapies. We previously demonstrated definitive β-globin production from human embryonic stem cell (hESC)-derived erythroid cell generation via hemangioblast-like ES-sacs. In this study, we demonstrated normal β-globin protein production from biallelic corrected sickle cell disease (SCD) iPSCs. Read More

Br J Haematol 2020 May 7;189(3):408-423. Epub 2020 Feb 7.

Blood and Marrow Transplantation, Center for Cancer and Blood Disorders, Children's National Health System, Washington, DC, USA.

Haematopoietic stem cell transplantation (HSCT) is curative in sickle cell disease (SCD); however, the lack of available matched donors makes this therapy out of reach for the majority of patients with SCD. Alternative donor sources such as haploidentical HSCT expand the donor pool to nearly all patients with SCD, with recent data showing high overall survival, limited toxicities, and effective reduction in acute and chronic graft-versus-host disease (GVHD). Simultaneously, multiple gene therapy strategies are entering clinical trials with preliminary data showing their success, theoretically offering all patients yet another curative strategy without the morbidity and mortality of GVHD. Read More

Cureus 2020 Jan 12;12(1):e6638. Epub 2020 Jan 12.

Pediatrics, King Abdulaziz University, Jeddah, SAU.

Objectives: Previous studies have not addressed microalbuminuria in pediatric patients with sickle cell disease (SCD) in Jeddah, Saudi Arabia. This study aimed to determine the prevalence of microalbuminuria and to identify associated risk factors in children with SCD at King Abdulaziz University Hospital.

Results: Overall, 42. Read More

Pediatr Nephrol 2020 05 20;35(5):883-889. Epub 2020 Jan 20.

Internal Medicine, Division of Hematology, Virginia Commonwealth University, 730 E. Broad St, Richmond, VA, 23219, USA.

Background: Sickle cell nephropathy (SCN) is a progressive disease that contributes significant morbidity and mortality in sickle cell disease (SCD), yet it remains poorly understood. Hyperuricemia negatively impacts renal function in the non-sickle cell population but is understudied in SCD.

Methods: We performed a cross-sectional analysis of the first 78 pediatric SCD patients enrolled in a cohort study. Read More

Mol Ther Methods Clin Dev 2019 Dec 11;15:430-437. Epub 2019 Nov 11.

Cellular and Molecular Therapeutics Branch, National Heart, Lung, and Blood Institute (NHLBI), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.

Humanized animal models are central to efforts aimed at improving hematopoietic stem cell (HSC) transplantation with or without genetic modification. Human cell engraftment is feasible in immunodeficient mice; however, high HSC doses and conditioning limit broad use of xenograft models. We assessed human CD45 chimerism after transplanting varying doses of human CD34 HSCs (2 × 10 to 2 × 10 cells/mouse) with or without busulfan (BU) pretransplant conditioning in c-kit mutant mice that do not require conditioning (non-obese diabetic [NOD]/B6/severe combined immunodeficiency [SCID]/ interleukin-2 receptor gamma chain null (IL-2rγ) Kit [NBSGW]). Read More

Cytotherapy 2019 12 26;21(12):1206-1215. Epub 2019 Nov 26.

Cellular and Molecular Therapeutics Branch, National Heart Lung and Blood Institutes/National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.

Background Aims: Allogeneic hematopoietic stem cell transplantation is curative for sickle cell disease, and the use of matched related donors, non-myeloablative conditioning and sirolimus immunosuppression results in stable mixed chimerism without graft-versus-host disease (GVHD). However, the time to terminate sirolimus while maintaining mixed chimerism is unclear.

Methods: In this study, we developed a two-way mixed lymphocyte reaction (MLR) to evaluate ex vivo immunoreaction in mixed chimeric patients. Read More

Am J Hematol 2020 02 31;95(2):205-211. Epub 2019 Dec 31.

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

70 years ago, Linus Pauling, the legendary genius of 20 century chemistry, published his famous work on the molecular cause of sickle cell disease, a paper that gave birth to what is now called molecular medicine. In this paper, Pauling left important questions unanswered that have motivated an enormous amount of scientific and clinical research since then. This retrospective discusses the basic science studies that have answered those questions directly related to the kinetics and thermodynamics of hemoglobin S polymerization. Read More

Radiol Case Rep 2020 Jan 8;15(1):26-30. Epub 2019 Nov 8.

Department of Pediatric Radiology, Medical University of South Carolina, 96 Jonathan Lucas Street, Suite 210, MSC 323, Charleston, SC 29425 USA.

Sickle cell disease is the most common inherited blood disorder in the United States. The primary driver of pathology is microvascular occlusion which affects multiple organ systems including the kidney. The renal pathology usually manifests as hematuria, proteinuria, or microalbuminuria, and up to 10% of individuals with homozygous sickle cell disease (HbSS) develop renal failure over their lifetime. Read More

Cochrane Database Syst Rev 2019 11 14;2019(11). Epub 2019 Nov 14.

Thame, UK.

Background: Sickle cell disease (SCD) is a group of inherited disorders of haemoglobin (Hb) structure in a person who has inherited two mutant globin genes (one from each parent), at least one of which is always the sickle mutation. It is estimated that between 5% and 7% of the world's population are carriers of the mutant Hb gene, and SCD is the most commonly inherited blood disorder. SCD is characterized by distorted sickle-shaped red blood cells. Read More

Mediterr J Hematol Infect Dis 2019 1;11(1):e2019067. Epub 2019 Nov 1.

Department of Pediatrics, Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

Inherited hemoglobin disorders, including beta-thalassemia (BT) and sickle-cell disease (SCD), are the most common monogenic diseases worldwide, with a global carrier frequency of over 5%.1 With migration, they are becoming more common worldwide, making their management and care an increasing concern for health care systems. BT is characterized by an imbalance in the α/β-globin chain ratio, ineffective erythropoiesis, chronic hemolytic anemia, and compensatory hemopoietic expansion. Read More

Ultrasonography 2020 Jan 5;39(1):79-84. Epub 2019 Jul 5.

Department of Radiology, Obafemi Awolowo University Teaching Hospital, Ile-Ife, Nigeria.

Purpose: This study was conducted to test the hypothesis that the carotid intima-media thickness (CIMT) is higher in patients with sickle cell disease (SCD) than in the normal population, and to determine the relationships of the CIMT with central retinal artery (CRA) and renal artery Doppler indices.

Methods: Forty-four confirmed steady-state SCD patients aged 16 years and above were recruited consecutively. The Doppler velocimetric indices of their right renal artery and both CRAs were obtained. Read More

J Ultrasound Med 2020 Apr 30;39(4):785-793. Epub 2019 Oct 30.

Department of Radiologic Sciences, Faculty of Allied Health Sciences, Kuwait University, Sulaibekhat, Kuwait.

Objectives: To evaluate renal blood flow patterns and renovascular parameters in adult patients with sickle cell disease (SCD) without laboratory evidence of renal impairment.

Methods: Sixty-five steady-state adult patients with SCD (50 hemoglobin SS [HbSS], 12 HbSβ , and 3 HbSD) and 30 age- and sex-matched healthy controls were studied. The kidney length, echo pattern, peak systolic velocity (PSV), end-diastolic velocity, renal-to-aortic ratio, resistive index (RI), acceleration time (AT), and renal vein velocity were acquired, recorded, and analyzed with a 1-5-MHz curvilinear transducer through the abdomen. Read More

Ann Hematol 2019 Nov 24;98(11):2627-2628. Epub 2019 Oct 24.

Department of Intensive Care, Cliniques universitaires St-Luc, Université catholique de Louvain, Avenue Hippocrate, 10, 1200, Brussels, Belgium.

Blood Adv 2019 10;3(20):3170-3180

Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; and.

Sickle cell disease (SCD) is an inherited monogenic red blood cell disorder affecting millions worldwide. SCD causes vascular occlusions, chronic hemolytic anemia, and cumulative organ damage such as nephropathy, pulmonary hypertension, pathologic heart remodeling, and liver necrosis. Coagulation system activation, a conspicuous feature of SCD that causes chronic inflammation, is an important component of SCD pathophysiology. Read More

Ann Hematol 2019 Dec 23;98(12):2653-2660. Epub 2019 Oct 23.

Post-Graduation Program in Pharmaceutical Sciences, School of Pharmacy, Federal University of Ceara, Capitão Francisco Pedro, Street, n.1210 - Rodolfo Teófilo, Fortaleza, Ceara, CEP 60430-370, Brazil.

Sickle cell disease (SCD) is a hereditary condition characterized by homozygosis of the hemoglobin S (HbS) gene. Marked morbimortality is observed due to chronic hemolysis, endothelial injury, and episodes of vaso-occlusion, which leads to multi-organ damage. Renal impairment is common and may have different presentations, such as deficiency in urinary acidification or concentration, glomerulopathies, proteinuria, and hematuria, frequently resulting in end-stage renal disease (ESRD). Read More

Pathol Int 2019 Dec 15;69(12):710-714. Epub 2019 Oct 15.

Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan.

Renal cell carcinoma unclassified with medullary phenotype (RCCU-MP) is a rare variant of renal medullary carcinoma (RMC) characterized by loss of SMARCB1 (INI1 / SNF5 / BAF47) protein expression in patients without sickle cell trait. Here, we report a case of RCCU-MP in a Japanese patient who had experienced colon cancer 13 years ago, gastric cancer 11 years ago and lung cancer 9 years ago and had received hemodialysis for 15 years. This is the first report of RCCU-MP in Japan. Read More

Am J Kidney Dis 2019 12 10;74(6):811-821. Epub 2019 Oct 10.

Nephrology, Hospital and Specialty Medicine and Center for Innovation for Veteran-Centered and Value Driven Care, Veterans Affairs Puget Sound Health Care System, Seattle, WA; Kidney Research Institute and Division of Nephrology, University of Washington, Seattle, WA. Electronic address:

African Americans have a 2- to 4-fold greater incidence of end-stage kidney disease (ESKD) than whites, which has long raised the possibility of a genetic cause for this disparity. Recent advances in genetic studies have shown a causal association of polymorphisms at the apolipoprotein L1 gene (APOL1) with the markedly increased risk for the nondiabetic component of the overall disparity in ESKD in African Americans. Although APOL1-associated kidney disease is thought to account for a substantial proportion of ESKD in African Americans, not all the increased risk for ESKD is accounted for, and a complete cataloging of disparities in genetic causes of ESKD eludes our current understanding of genetic-associated kidney disease. Read More

Public Health Rep 2019 Nov/Dec;134(6):599-607. Epub 2019 Oct 10.

National Minority Quality Forum, Washington, DC, USA.

Sickle cell disease (SCD) is an inherited blood disorder most common among African American and Hispanic American persons. The disease can cause substantial, long-term, and costly health problems, including infections, stroke, and kidney failure, many of which can reduce life expectancy. Disparities in receiving health care among African Americans and other racial/ethnic minority groups in the United States are well known and directly related to poor outcomes associated with SCD. Read More

Am J Hematol 2019 12 18;94(12):1302. Epub 2019 Oct 18.

Department of Data Sciences, Dana-Farber Cancer Institute, Boston, Massachusetts.

Sci Rep 2019 10 7;9(1):14382. Epub 2019 Oct 7.

BillionToOne Inc., Menlo Park, CA, 94025, USA.

Next-generation DNA sequencing is currently limited by an inability to accurately count the number of input DNA molecules. Molecular counting is particularly needed when accurate quantification is required for diagnostic purposes, such as in single gene non-invasive prenatal testing (sgNIPT) and liquid biopsy. We developed Quantitative Counting Template (QCT) molecular counting to reconstruct the number of input DNA molecules using sequencing data. Read More

Nephrol Dial Transplant 2019 Oct 3. Epub 2019 Oct 3.

Pathophysiology, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

Nat Commun 2019 10 2;10(1):4479. Epub 2019 Oct 2.

Cellular and Molecular Therapeutics Branch, National Heart Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, Maryland, USA.

Hematopoietic stem cell (HSC) gene therapy is being evaluated for hemoglobin disorders including sickle cell disease (SCD). Therapeutic globin vectors have demanding requirements including high-efficiency transduction at the HSC level and high-level, erythroid-specific expression with long-term persistence. The requirement of intron 2 for high-level β-globin expression dictates a reverse-oriented globin-expression cassette to prevent its loss from RNA splicing. Read More

Ophthalmic Plast Reconstr Surg 2019 Nov/Dec;35(6):e149-e151

Department of Ophthalmology, Columbia University Medical Center.

A 22-year-old Hispanic man with sickle cell trait presented with blurred vision, double vision, and pain with OD movement. MRI demonstrated an extra-axial mass centered around the temporal bone with extension into the middle cranial fossa and lateral aspect of the extra-conal right orbit, and mass effect on the lateral rectus muscle. Biopsy of the lesion was consistent with renal medullary carcinoma. Read More

Pathol Res Pract 2019 Nov 17;215(11):152651. Epub 2019 Sep 17.

Department of Pathology, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, Jiangsu, China. Electronic address:

Anaplastic lymphoma kinase (ALK)-rearranged renal cell carcinoma (RCC) is a novel entity of rare tumors with only 10 cases reported in the literature. Three RCC cases bearing VCL-ALK gene fusion were all young African American patients and associated with sickle cell trait notably. In contrast to the 3 reported cases, this neoplasm occurred in a middle-age woman (57 years old) without any evidence of sickle cell trait and demonstrated an infiltrating growth pattern with tubular, tubulopapillary, and tubulocystic structures, overlapping with collecting duct carcinoma and renal medullary carcinoma. Read More

Micromachines (Basel) 2019 Sep 25;10(10). Epub 2019 Sep 25.

MEtRICs, Mechanical Engineering Department, University of Minho, Campus de Azurém, 4800-058 Guimarães, Portugal.

The loss of the red blood cells (RBCs) deformability is related with many human diseases, such as malaria, hereditary spherocytosis, sickle cell disease, or renal diseases. Hence, during the last years, a variety of technologies have been proposed to gain insights into the factors affecting the RBCs deformability and their possible direct association with several blood pathologies. In this work, we present a simple microfluidic tool that provides the assessment of motions and deformations of RBCs of end-stage kidney disease (ESKD) patients, under a well-controlled microenvironment. Read More

Saudi J Kidney Dis Transpl 2019 Jul-Aug;30(4):832-842

Department of Pediatrics, Faculty of Medicine and Health Sciences, University of Aden, Aden, Yemen.

Microalbuminuria (MA) has been recognized as a sensitive marker of early glomerular injury and a predictor of kidney dysfunction in patients with sickle cell disease (SCD). Limited data are available about MA in SCD children in the Arab countries and none from Yemen. The aim of this study is to determine the prevalence and correlates of MA among 101 children aged 1-16 years, with SCD at their steady state. Read More

Nat Commun 2019 08 26;10(1):3842. Epub 2019 Aug 26.

Biomedical Laboratory Research and Development, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA.

Chronic kidney disease (CKD), defined by low estimated glomerular filtration rate (eGFR), contributes to global morbidity and mortality. Here we conduct a transethnic Genome-Wide Association Study of eGFR in 280,722 participants of the Million Veteran Program (MVP), with replication in 765,289 participants from the Chronic Kidney Disease Genetics (CKDGen) Consortium. We identify 82 previously unreported variants, confirm 54 loci, and report interesting findings including association of the sickle cell allele of betaglobin among non-Hispanic blacks. Read More

Front Endocrinol (Lausanne) 2019 7;10:533. Epub 2019 Aug 7.

Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States.

To improve detection of undiagnosed diabetes in Africa, there is movement to replace the OGTT with A1C. The performance of A1C in the absence of hemoglobin-related micronutrient deficiencies, anemia and heterozygous hemoglobinopathies is unknown. Therefore, we determined in 441 African-born blacks living in America [male: 65% (281/441), age: 38 ± 10 y (mean ± SD), BMI: 27. Read More

Am J Hematol 2019 12 17;94(12):E312-E314. Epub 2019 Sep 17.

Vascular Medicine Institute, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.

Cytokine 2020 01 20;125:154800. Epub 2019 Aug 20.

Laboratório Interdisciplinar de Investigação Médica, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Minas Gerais 30130-100, Brazil. Electronic address:

Sickle cell anemia (SCA) is an important cause of chronic kidney disease, but its pathophysiology is not completely understood. The aim of this study was to compare inflammatory biomarkers in urine samples of SCA children with and without albuminuria, and to explore correlations with renin-angiotensin system (RAS) molecules. A cross-sectional study of 213 children selected from the Minas Gerais state cohort were assigned to two groups: Group 1-89 children with SCA who had albuminuria; Group 2-124 children with SCA and normal albuminuria matched by age and sex with group 1. Read More

Am J Hematol 2019 12 10;94(12):1306-1313. Epub 2019 Sep 10.

Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

Sickle cell trait (SCT) has been associated with hypercoagulability, chronic kidney disease (CKD), and ischemic stroke. Whether concomitant CKD modifies long-term ischemic stroke risk in individuals with SCT is uncertain. We analyzed data from 3602 genotyped black adults (female = 62%, mean baseline age = 54 years) who were followed for a median 26 years by the Atherosclerosis Risk in Communities Study. Read More

Am J Hematol 2019 11 22;94(11):E299-E301. Epub 2019 Aug 22.

Division of Cardiology, University of North Carolina, Chapel Hill, North Carolina.