24,661 results match your criteria Sickle Cell Anemia


Beneficial Effects of Soluble Guanylyl Cyclase Stimulation and Activation in Sickle Cell Disease are Amplified by Hydroxyurea: and Studies.

J Pharmacol Exp Ther 2020 Jul 6. Epub 2020 Jul 6.

Hematology Center - UNICAMP;

The complex pathophysiology of sickle cell anemia (SCA) involves intravascular hemolytic processes and recurrent vaso-occlusion, driven by chronic vascular inflammation, which result in the disease's severe clinical complications, including recurrent painful vaso-occlusive episodes. Hydroxyurea, the only drug frequently used for SCA therapy, is a cytostatic agent, although it appears to exert nitric oxide/ soluble guanylyl cyclase (sGC) modulating activity. As new drugs that can complement, or replace, the use of hydroxyurea are sought to further reduce vaso-occlusive episode frequency in SCA, we investigated the effects of the sGC agonists, BAY 60-2770 (sGC activator) and BAY 41-2272 (sGC stimulator), in the presence or absence of hydroxyurea, on SCA vaso-occlusive mechanisms and cell recruitment, ex vivo and in vivo. Read More

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http://dx.doi.org/10.1124/jpet.119.264606DOI Listing

Four phase 1 trials to evaluate the safety and pharmacokinetic profile of single and repeated dosing of SCO-101 in adult male and female volunteers.

Basic Clin Pharmacol Toxicol 2020 Jul 6. Epub 2020 Jul 6.

Scandion Oncology A/S, Copenhagen, Denmark.

SCO-101 (Endovion) was discontinued 20 years ago as a new drug under development against sickle cell anaemia. Data from the phase 1 studies remained unpublished. New data indicate that SCO-101 might be efficacious as add-on therapy in cancer. Read More

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http://dx.doi.org/10.1111/bcpt.13466DOI Listing

Rapid progression to end-stage renal disease in a child with IgA-dominant infection-related glomerulonephritis associated with parvovirus B19.

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

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http://dx.doi.org/10.1007/s13730-020-00501-wDOI Listing

Clinical characteristics, histopathology, and tissue immunolocalization of chikungunya virus antigen in fatal cases.

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

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http://dx.doi.org/10.1093/cid/ciaa837DOI Listing
July 2020
8.886 Impact Factor

Hereditary Hemorrhagic Telangiectasia in a Sickle Cell Trait Patient: A Report of a Rare Case with Use of Nuclear Medicine, and a Literature Review.

Am J Case Rep 2020 Jul 2;21:e923355. Epub 2020 Jul 2.

Medical School, Fluminense Federal University, Niterói, RJ, Brazil.

BACKGROUND Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant disease. CASE REPORT Here, we report a case of a 49-year-old Brazilian woman with a history of multiple hospitalizations, sometimes life-threatening anemia, and uncommon clinical manifestations. CONCLUSIONS We provide a brief literature review regarding the most common signs and symptoms, history, diagnosis, and treatment. Read More

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http://dx.doi.org/10.12659/AJCR.923355DOI Listing

Partnerships and Collaborations: The Right Alliances for Clinical Trials in Africa.

JCO Glob Oncol 2020 Jun;6:954-958

Synteract, Ely, Cambridgeshire, United Kingdom.

Africa attracts < 1% of all trials conducted around the world. The implication is that proof of safety and efficacy in Africans is lacking for a lot of new therapies. The sizeable proportion of approximately 20% of the global population that Africa represents largely does not have empiric data to support use of new therapies in a population with a distinct genetic and racial profile. Read More

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http://dx.doi.org/10.1200/JGO.19.00194DOI Listing

Fatal complication of sickle cell anemia in an immigrant patient rescued from the mediterranean sea.

Clin Ter 2020 Jul-Aug;171(4):e291-e294

Department Pro.Mi.Se., University of Palermo.

The aim of this case report is to share with the forensic science community the experience of a rare complication of sickle cell anemia: acute chest syndrome. In October 2016, at the port of the city of Trapani (Sicily, Italy), the landing of an ONG "Médecins Sans Frontières" ship took place with 548 non-EU citizens and a corpse on board. The man, in the hours before his death, complained of severe chest pain and respiratory difficulties, and, despite of the therapeutic aids and resuscitation maneuvers, lastly died. Read More

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http://dx.doi.org/10.7417/CT.2020.2230DOI Listing

In Vitro Lymphocyte Functions in Undernourished Children With Sickle Cell Anemia.

Ochsner J 2020 ;20(2):151-160

Department of Pediatrics, Division of Hematology/Oncology, Louisiana State University Health Sciences Center, New Orleans, LA.

Children with sickle cell disease (SCD) often suffer from growth deficits and impaired immunity. However, the association between mild to moderate malnutrition and in vitro lymphocyte function has not been well studied. The goal of this study was to investigate the effects of undernutrition on lymphocyte functions in children with SCD. Read More

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http://dx.doi.org/10.31486/toj.19.0024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310185PMC
January 2020

Silent Cerebral Infarct in Sickle Cell Anemia Patients of South Turkey.

Turk J Med Sci 2020 Jun 30. Epub 2020 Jun 30.

Background/aim: Silent cerebral infarct (SCI) is an ischemic lesion seen before clinical signs of brain infarct and ischemic changes in brain tissue. This study aimed to detect SCI with non-invasive methods and to determine releated risk factors in patients with sickle cell anemia (SCA).

Materials And Methods: Fifty-four SCA patients who had no history of cerebral infarct and whose neurological examinations were normal, were included in this study. Read More

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http://dx.doi.org/10.3906/sag-2003-192DOI Listing

The Economic Burden of End-Organ Damage Among Medicaid Patients with Sickle Cell Disease in the United States: A Population-Based Longitudinal Claims Study.

J Manag Care Spec Pharm 2020 Jun 29:1-9. Epub 2020 Jun 29.

Johns Hopkins University, Baltimore, Maryland.

Background: The management of sickle cell disease (SCD), an inherited, chronic, and multifaceted condition, is associated with considerable health care resource utilization (HRU) and costs, especially for Medicaid. Anemia affects most patients with SCD and correlates with end-organ damage (EOD), such as stroke, chronic kidney disease (CKD), end-stage renal disease (ESRD), and pulmonary hypertension (PH). Limited research has been conducted to quantify the economic burden of EOD among patients with SCD. Read More

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http://dx.doi.org/10.18553/jmcp.2020.20009DOI Listing

Mechanical Signature of Red Blood Cells Flowing Out of a Microfluidic Constriction Is Impacted by Membrane Elasticity, Cell Surface-to-Volume Ratio and Diseases.

Front Physiol 2020 12;11:576. Epub 2020 Jun 12.

Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe "Biologie Vasculaire et du Globule Rouge", UCBL1, Villeurbanne, France.

Despite the fact that Red Blood Cells (RBCs) have been intensively studied in the past 50 years to characterize mechanical phenotypes associated with both healthy and pathological states, only ektacytometry (i.e., laser diffractometry) is currently used by hematologists to screen for RBC membrane disorders. Read More

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http://dx.doi.org/10.3389/fphys.2020.00576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303906PMC

Advances in Sickle Cell Disease Management.

Adv Pediatr 2020 Aug 14;67:57-71. Epub 2020 May 14.

Division of Hematology/Oncology, Department of Pediatrics, University of South Florida Morsani College of Medicine, Tampa, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.yapd.2020.03.001DOI Listing

Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study.

Lancet Haematol 2020 Jul;7(7):e534-e540

Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.

Background: Sickle cell disease is highly prevalent in sub-Saharan Africa, where it accounts for substantial morbidity and mortality. Newborn screening is paramount for early diagnosis and enrolment of affected children into a comprehensive care programme. Up to now, this strategy has been greatly impaired in resource-poor countries, because screening methods are technologically and financially intensive; affordable, reliable, and accurate methods are needed. Read More

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http://dx.doi.org/10.1016/S2352-3026(20)30143-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322555PMC

Haptoglobin Therapeutics and Compartmentalization of Cell-Free Hemoglobin Toxicity.

Trends Mol Med 2020 Jul 21;26(7):683-697. Epub 2020 Mar 21.

Division of Internal Medicine, University Hospital, Zurich, Switzerland. Electronic address:

Hemolysis and accumulation of cell-free hemoglobin (Hb) in the circulation or in confined tissue compartments such as the subarachnoid space is an important driver of disease. Haptoglobin is the Hb binding and clearance protein in human plasma and an efficient antagonist of Hb toxicity resulting from physiological red blood cell turnover. However, endogenous concentrations of haptoglobin are insufficient to provide protection against Hb-driven disease processes in conditions such as sickle cell anemia, sepsis, transfusion reactions, medical-device associated hemolysis, or after a subarachnoid hemorrhage. Read More

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http://dx.doi.org/10.1016/j.molmed.2020.02.004DOI Listing

Parents of Children with Sickle Cell Disease Are Interested in Preimplantation Genetic Testing.

J Pediatr 2020 Jun 22. Epub 2020 Jun 22.

The George Washington University School of Medicine and Health Sciences, Washington, DC; Children's National Hospital, Division of Hematology, Washington, DC. Electronic address:

Objective: To evaluate awareness of and attitudes toward preimplantation genetic testing (PGT) for sickle cell disease (SCD) among parents of children with SCD.

Study Design: Parents of children with SCD were given an educational handbook on PGT before a routine SCD clinic visit. After their clinic visit, parents were asked to complete an anonymous survey. Read More

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http://dx.doi.org/10.1016/j.jpeds.2020.04.027DOI Listing

Management of Hemoglobin Disorders During the COVID-19 Pandemic.

Front Med (Lausanne) 2020 9;7:306. Epub 2020 Jun 9.

Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

The coronavirus disease 2019 (COVID-19) is an emerging infectious disease that has become a global public health concern after being first reported in China and has subsequently spread worldwide. It causes mild to severe respiratory illness with some flu-like symptoms. The causal virus behind this disease, SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2), conceivably attacks the receptors of the respiratory system of the human body but has no strict evidence of attacking the blood cells yet. Read More

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http://dx.doi.org/10.3389/fmed.2020.00306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295899PMC

Hydroxyurea Dose Escalation for Sickle Cell Anemia in Sub-Saharan Africa.

N Engl J Med 2020 06;382(26):2524-2533

From the Ryan White Center for Pediatric Infectious Diseases and Global Health, Department of Pediatrics, Indiana University, Indianapolis (C.C.J.); the Department of Pediatrics and Child Health, Makerere University (R.O.O., H.A.H., C.N., P.K., C.M.N.), Global Health Uganda (R.O.O., C.N.), and Mulago Hospital (P.K.) - all in Kampala, Uganda; the Division of Hematology, Department of Pediatrics (T.S.L., A.L., R.E.W.), and the Global Health Center (R.E.W.), Cincinnati Children's Hospital Medical Center, and the University of Cincinnati College of Medicine (A.L., R.E.W.) - all in Cincinnati; and the Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal (H.A.H.).

Background: Hydroxyurea has proven safety, feasibility, and efficacy in children with sickle cell anemia in sub-Saharan Africa, with studies showing a reduced incidence of vaso-occlusive events and reduced mortality. Dosing standards remain undetermined, however, and whether escalation to the maximum tolerated dose confers clinical benefits that outweigh treatment-related toxic effects is unknown.

Methods: In a randomized, double-blind trial, we compared hydroxyurea at a fixed dose (approximately 20 mg per kilogram of body weight per day) with dose escalation (approximately 30 mg per kilogram per day). Read More

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http://dx.doi.org/10.1056/NEJMoa2000146DOI Listing

Engagement in Household Chores in Youth With Chronic Conditions: Health care Transition Implications.

OTJR (Thorofare N J) 2020 Jun 24:1539449220928142. Epub 2020 Jun 24.

The University of North Carolina at Chapel Hill, USA.

This study examined associations between chores engagement, self-management, and transition readiness in youth with chronic conditions. Youths with various chronic conditions attending a therapeutic camp, and their parents participated. Responses of 165 campers and their parents were analyzed (mean camper age 12. Read More

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http://dx.doi.org/10.1177/1539449220928142DOI Listing

Laparoscopic Splenectomy in Children: Safety of Ligasure Usage.

Med Arch 2020 Apr;74(2):131-133

Department of Pediatric Surgery, Queen Rania Al- Abdulla Hospital for Children, K.H.M.C, Amman, Jordan.

Introduction: Laparoscopic splenectomy started to be more popular and nowadays it is the first choice for splenectomy in children. The main advantages of laparoscopic splenectomy over open approach are the shorter hospital stay, low complications and the cosmetic results despite the main concern of long operative time and the intra operative bleeding.

Aim: The aim of this study was to report our experience with laparoscopic splenectomy in children's with hematological diseases using ligasure regarding vascular control safety, efficacy and complications rate. Read More

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http://dx.doi.org/10.5455/medarh.2020.74.131-133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7296396PMC

Thrombin generation in children with sickle cell Anemia is Higher in the presence of platelets.

Transfus Apher Sci 2020 Jun 16:102852. Epub 2020 Jun 16.

University of Texas Southwestern, 5323 Harry Hines Boulevard, Dallas, TX, 75390, USA.

Cellular and plasma interactions underlie hypercoagulability in sickle cell anemia (SCA). In healthy adults, thrombin generation (TG), a biomarker of hypercoagulability, is similar in plasma with and without platelets. Studies investigating TG in SCA using platelet-poor plasma (PPP) show conflicting results. Read More

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http://dx.doi.org/10.1016/j.transci.2020.102852DOI Listing

High molecular weight kininogen contributes to early mortality and kidney dysfunction in a mouse model of sickle cell disease.

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

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http://dx.doi.org/10.1111/jth.14972DOI Listing

Liver damage and sickle cell disease: genotype relationship.

Ann Hematol 2020 Jun 22. Epub 2020 Jun 22.

Unità di Medicina Generale, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza, 35, 20122, Milan, Italy.

Sickle hepatopathy is a severe and not rare complication of sickle cell disease (SCD), showing mainly a cholestatic pattern. So far, no effective approaches to prevent or treat this condition have been recognized. We conducted a single-center observational study in 68 adult sickle cell patients, encompassing 17 with sickle cell anemia (SCA), 38 with sickle cell thalassemia (HbS/β-Thal), and 13 with HbSC disease. Read More

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http://dx.doi.org/10.1007/s00277-020-04113-3DOI Listing

Impact of myalgic encephalomyelitis on treatment of comorbidities: A lived experience.

Work 2020 Jun 16. Epub 2020 Jun 16.

Chester Springs, PA, USA E-mail:

Myalgic Encephalomyelitis (ME) is a complex, chronic, disabling, multi-system disease with no FDA-approved treatments. ME greatly impacts quality of life (QoL) with studies showing that people with ME often have worse quality of life than people with sickle cell anemia and cystic fibrosis, among other chronic diseases. People with ME frequently have comorbidities, which, if treated, could improve quality of life. Read More

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http://dx.doi.org/10.3233/WOR-203175DOI Listing

Leucocytosis and Asymptomatic Urinary Tract Infections in Sickle Cell Patients at a Tertiary Hospital in Zambia.

Anemia 2020 2;2020:3792728. Epub 2020 Jun 2.

Department of Biomedical Sciences, School of Health Sciences, University of Zambia, Lusaka, Zambia.

Sickle cell anaemia (SCA) is an inherited disease resulting from mutations in the -globin chain of adult haemoglobin that results in the formation of homozygous sickle haemoglobin. It is associated with several complications including an altered blood picture and damage in multiple organs, including the kidneys. Kidney disease is seen in most patients with SCA and may affect glomerular and/or tubular function, thereby putting these patients at risk of urinary tract infections. Read More

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http://dx.doi.org/10.1155/2020/3792728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7290901PMC

High fetal hemoglobin level is associated with increased risk of cerebral vasculopathy in children with sickle cell disease in Mayotte.

BMC Pediatr 2020 Jun 20;20(1):302. Epub 2020 Jun 20.

Pediatric Medicine and Surgery, Cayenne General Hospital, Cayenne, French Guiana, France.

Background: Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia, specific to each population, would be prognostically useful and could inform personalized therapeutics.The objective of this study was to describe the genetic modulators of sickle cell disease in a cohort of pediatric patients followed up in Mayotte.

Methods: This retrospective cohort study analyzed clinical and biological data, collected between January12007 and December 312017, in children younger than 18 years. Read More

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http://dx.doi.org/10.1186/s12887-020-02187-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305627PMC

Differential diagnosis of hereditary hemolytic anemias in a single multiscreening test by TGA/chemometrics.

Chem Commun (Camb) 2020 Jun 18. Epub 2020 Jun 18.

Department of Chemistry - "Sapienza" University of Rome, P.le A.Moro 5, 00185 Rome, Italy.

A multi-screening test based on the coupling of thermogravimetry and chemometrics was optimized for the differential diagnosis of hereditary hemolytic anemias. The novel test is able to simultaneously perform a simple and fast diagnosis of sickle cell anemia, thalassemia, hereditary spherocytosis and hereditary elliptocytosis in a single analysis of a few microliters of non-pretreated whole blood. The thermogravimetric profile of blood from patients affected by such disorders was found to be characteristic of a specific anemic status or a disorder due to membrane defects. Read More

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http://dx.doi.org/10.1039/d0cc02948cDOI Listing

Association between hospital admissions and healthcare provider communication for individuals with sickle cell disease.

Hematology 2020 Dec;25(1):229-240

Department of Hematology/Oncology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.

To test the hypothesis that caregivers' or adult participants' low ratings of provider communication are associated with more hospital admissions among adults and children with sickle cell disease (SCD), respectively. Secondarily, we determined whether there was an association between the caregivers' or participants' health literacy and rating of providers' communication. Primary data were collected from participants through surveys between 2014 and 2016, across six sickle cell centers throughout the U. Read More

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http://dx.doi.org/10.1080/16078454.2020.1780737DOI Listing
December 2020

Knowledge and awareness of individual sickle cell genotype among adolescents in a unity school in Southeast, Nigeria: a cross-sectional study.

Int J Adolesc Med Health 2020 Jun 9. Epub 2020 Jun 9.

Healthy Sunrise Foundation, Las Vegas, Nevada, USA.

Objective Our study sought to assesses the knowledge and awareness of individual sickle cell genotype among adolescents. Methods Participants were recruited from a large school in Southeast Nigeria where adult prevalence of sickle cell trait is 25%. Data was collected through a 50-item survey with previously pretested questions that assessed awareness of individual genotype, general knowledge of sickle cell disease, perception of sickle cell trait and sickle cell anaemia (SCA). Read More

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http://dx.doi.org/10.1515/ijamh-2019-0149DOI Listing

[Sickle cell disease].

Internist (Berl) 2020 Jul;61(7):754-758

Praxis Prof. Eber, München, Deutschland.

The term "sickle cell disease" covers a group of genetic blood disorders caused by sickle hemoglobin (HbS) alone or in combination with other variants of the β‑globin locus. Sickle cell disease occurs frequently in sub-Saharan Africa, but is also common in Turkey, Greece, Sicily, the Middle East, India, and the Americas. Polymerization of deoxygenated sickle hemoglobin leads to decreased deformability of red blood cells. Read More

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http://dx.doi.org/10.1007/s00108-020-00822-zDOI Listing

Prevalence of Congenital Hemolytic Disorders in Denmark, 2000-2016.

Clin Epidemiol 2020 21;12:485-495. Epub 2020 May 21.

Department of Clinical Research, University of Southern Denmark, Odense, Denmark.

Background: Congenital red blood cell (RBC) disorders, such as hemoglobinopathies, are frequent worldwide but with large geographical variation. Growing migration has increased the number of patients with RBC disorders in formerly low prevalence countries, eg, Denmark. However, accurate prevalences are unknown. Read More

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http://dx.doi.org/10.2147/CLEP.S250251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247725PMC

Locomotor mal-performance and gait adaptability deficits in sickle cell mice are associated with vascular and white matter abnormalities and oxidative stress in cerebellum.

Brain Res 2020 Jun 10;1746:146968. Epub 2020 Jun 10.

Department of Perioperative Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

Patients with sickle cell disease (SCD) can develop strokes and as a result, present neurologic and neurocognitive deficits. However, recent studies show that even without detectable cerebral parenchymal abnormalities on imaging studies, SCD patients can have significant cognitive and motor dysfunction, which can present as early as during infancy. As the cerebellum plays a pivotal role in motor and non-motor functions including sensorimotor processing and learning, we examined cerebellar behavior in humanized SCD mice using the Erasmus ladder. Read More

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http://dx.doi.org/10.1016/j.brainres.2020.146968DOI Listing

Delta-Globin Gene Expression Is Enhanced by Interferon Type I.

Front Med (Lausanne) 2020 22;7:163. Epub 2020 May 22.

Istituto Di Ricerca Genetica e Biomedica Del Consiglio Nazionale Delle Ricerche, Monserrato, Italy.

Beta hemoglobinopathies are widely spread monogenic lethal diseases. gene activation has been proposed as a possible approach for curing these pathologies. The therapeutic potential of delta-globin, the non-alpha component of Hemoglobin A (α2δ2; HbA2), has been demonstrated in a mouse model of beta thalassemia, while its anti-sickling effect, comparable to that of gamma globin, was established some time ago. Read More

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http://dx.doi.org/10.3389/fmed.2020.00163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7256663PMC

Trends in the Development of Diagnostic Tools for Red Blood Cell-Related Diseases and Anemias.

Front Physiol 2020 26;11:387. Epub 2020 May 26.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, UOC Ematologia, UOS Fisiopatologia delle Anemie, Milan, Italy.

In the recent years, the progress in genetic analysis and next-generation sequencing technologies have opened up exciting landscapes for diagnosis and study of molecular mechanisms, allowing the determination of a particular mutation for individual patients suffering from hereditary red blood cell-related diseases or anemia. However, the huge amount of data obtained makes the interpretation of the results and the identification of the pathogenetic variant responsible for the diseases sometime difficult. Moreover, there is increasing evidence that the same mutation can result in varying cellular properties and different symptoms of the disease. Read More

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http://dx.doi.org/10.3389/fphys.2020.00387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264400PMC

Nights with sickle cell.

Fam Syst Health 2020 Jun;38(2):215-216

Department of Epidemiology.

The majority of sickle cell disease (SCD) patients suffer from numerous health problems like chronic pain and anemia. Oftentimes these patients require emergency health care, including unscheduled blood transfusions to treat or prevent severe complications accompanied with SCD. This poem explores a Black SCD patient's experiences with implicit and explicit biases among health care providers as a person with this type of condition seeks emergency care. Read More

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http://dx.doi.org/10.1037/fsh0000468DOI Listing

Neglected Pulmonary Arterial Hypertension in Sickle Cell Anaemia during Prenatal Care.

Eur J Case Rep Intern Med 2020 8;7(6):001532. Epub 2020 Apr 8.

Department of Gynecology, Iran University of Medical Sciences, Tehran, Iran.

Pulmonary arterial hypertension (PAH) is one of the main complications of sickle cell disease (SCD) and imparts significant risk during pregnancy. Here, we report the outcome of undetected PAH in a pregnant woman with SCD. The patient presented with severe progressive dyspnoea with echocardiographic findings of high pressure in the pulmonary artery in the 37th week of pregnancy. Read More

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http://dx.doi.org/10.12890/2020_001532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279914PMC

Recent Advances in the Treatment of Sickle Cell Disease.

Front Physiol 2020 20;11:435. Epub 2020 May 20.

Sickle Cell Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, United States.

Sickle cell anemia (SCA) was first described in the Western literature more than 100 years ago. Elucidation of its molecular basis prompted numerous biochemical and genetic studies that have contributed to a better understanding of its pathophysiology. Unfortunately, the translation of such knowledge into developing treatments has been disproportionately slow and elusive. Read More

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http://dx.doi.org/10.3389/fphys.2020.00435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252227PMC

The curious case of hemoglobin DC disease masquerading as sickle cell anemia.

Hematol Rep 2020 May 22;12(1):8519. Epub 2020 May 22.

Division of Hematology-Oncology, Feist-Weiller Cancer Center, Louisiana State University Health Sciences Center, Shreveport, LA, USA.

Hemoglobin D is a relatively rare disease first reported in 1951. We present the first reported case of Hemoglobin DC disease. This is a case of a Hemoglobinopathy with DC disease in a woman with a previous diagnosis of Hemoglobin SC disease. Read More

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http://dx.doi.org/10.4081/hr.2020.8519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7256626PMC

Association between Anemia and Auditory Threshold Shifts in the US Population: National Health and Nutrition Examination Survey.

Int J Environ Res Public Health 2020 Jun 1;17(11). Epub 2020 Jun 1.

Department of Pharmacy Practice, Tri-Service General Hospital, Taipei 11490, Taiwan.

Existing evidence indicates that both iron deficiency anemia and sickle cell anemia have been previously associated with hearing loss. However, human data investigating the association between anemia and auditory threshold shifts at different frequencies in the adolescent, adult and elderly population are extremely limited to date. Therefore, this cross-sectional study used the dataset from the US National Health and Nutrition Examination Survey from 2005 to 2012 to explore differences in low- or high-frequency hearing thresholds and hearing loss prevalence between participants with and without anemia. Read More

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http://dx.doi.org/10.3390/ijerph17113916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312977PMC

Blood Cell Disorders and the Nervous System.

Continuum (Minneap Minn) 2020 06;26(3):659-674

Purpose Of Review: This article discusses the epidemiology, diagnosis, treatment, and prevention of neurologic complications of common and rare blood cell disorders.

Recent Findings: A growing number of preventive treatment options are available for stroke in sickle cell disease. Paroxysmal nocturnal hemoglobinuria and immune thrombocytopenia can lead to stroke. Read More

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http://dx.doi.org/10.1212/CON.0000000000000858DOI Listing

Mn porphyrins as a novel treatment targeting sickle cell NOXs to reverse and prevent acute vaso-occlusion in vivo.

Blood Adv 2020 Jun;4(11):2372-2386

Division of Hematology, Duke Comprehensive Sickle Cell Center.

In sickle cell disease (SCD), adhesion of sickle red blood cells (SSRBCs) and activated leukocytes in inflamed venules affects blood rheology, causing vaso-occlusive manifestations and vital reduction in microvascular blood flow. Recently, we found that NADPH oxidases (NOXs) create a vicious feedback loop within SSRBCs. This positive feedback loop mediates SSRBC adhesion to the endothelium. Read More

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http://dx.doi.org/10.1182/bloodadvances.2020001642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284092PMC

Can CSF spectrophotometry for "Xanthochromia" be used to detect leaking subarachnoid aneurysms in patients with sickle cell anemia with negative MRI or CT angiogram despite hyperbilirubinemia?

Clin Case Rep 2020 May 12;8(5):894-899. Epub 2020 Mar 12.

Department of Haematology Addenbrooke's Hospital Cambridge UK.

CSF (Cerebrospinal Fluid) xanthochromia by spectroscopy should not be dismissed in the context of hyperbilirubinemia in a patient with sickle cell anemia. Xanthochromia detected by spectrophotometry offers a vital clue that further invasive diagnosis is required. Read More

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http://dx.doi.org/10.1002/ccr3.2775DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250967PMC

Evaluation of the efficacy and safety of deferiprone compared with deferasirox in paediatric patients with transfusion-dependent haemoglobinopathies (DEEP-2): a multicentre, randomised, open-label, non-inferiority, phase 3 trial.

Lancet Haematol 2020 Jun;7(6):e469-e478

Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus, Valenzano, Italy.

Background: Transfusion-dependent haemoglobinopathies require lifelong iron chelation therapy with one of the three iron chelators (deferiprone, deferasirox, or deferoxamine). Deferasirox and deferiprone are the only two oral chelators used in adult patients with transfusion-dependent haemoglobinopathies. To our knowledge, there are no randomised clinical trials comparing deferiprone, a less expensive iron chelator, with deferasirox in paediatric patients. Read More

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http://dx.doi.org/10.1016/S2352-3026(20)30100-9DOI Listing

No child with a transfusion-dependent haemoglobinopathy left unchelated: are we there yet?

Lancet Haematol 2020 06;7(6):e429-e430

Section of Hematology, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06520-8028, USA. Electronic address:

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http://dx.doi.org/10.1016/S2352-3026(20)30114-9DOI Listing

Development of Algorithm for Clinical Management of Sickle Cell Bone Disease: Evidence for a Role of Vertebral Fractures in Patient Follow-up.

J Clin Med 2020 May 25;9(5). Epub 2020 May 25.

Section of Internal Medicine, Department of Medicine, University of Verona, 37134 Verona, Italy.

Sickle-cell disease (SCD) is a worldwide distributed hemoglobinopathy, characterized by hemolytic anemia associated with vaso-occlusive events. These result in acute and chronic multiorgan damage. Bone is early involved, leading to long-term disability, chronic pain and fractures. Read More

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http://dx.doi.org/10.3390/jcm9051601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291114PMC

Treating a Patient with Your Hands Tied: Acute Chest Syndrome in a Jehovah's Witness.

Cureus 2020 Apr 21;12(4):e7769. Epub 2020 Apr 21.

Pulmonary Critical Care, University of Connecticut Health Center, Farmington, USA.

Acute chest syndrome (ACS), a vaso-occlusive crisis in patients with sickle cell anemia, is a life-threatening condition and a leading cause of death in these patients. It is treated with analgesics, antibiotics, intravenous fluid, supplemental oxygen (or ventilatory support in severe cases) with simple or exchange transfusion, being the mainstay of therapy. We report a young Jehovah's Witness (JW) patient with sickle cell anemia who presented with ACS. Read More

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http://dx.doi.org/10.7759/cureus.7769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243639PMC

Polymorphisms in the heme oxygenase-1 and bone morphogenetic protein receptor type 1b genes and estimated glomerular filtration rate in Brazilian sickle cell anemia patients.

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

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http://dx.doi.org/10.1016/j.htct.2020.01.009DOI Listing

Outcomes of a preoperative risk-based transfusion assignment protocol in sickle cell disease patients: a single-center retrospective study from Saudi Arabia.

Pediatr Hematol Oncol 2020 May 27:1-11. Epub 2020 May 27.

Princess Noorah Oncology Center, King Abdul-Aziz Medical City, Ministry of National Guard - Health Affairs, Jeddah, Saudi Arabia.

Many patients with sickle cell disease (SCD) need surgical management during their lifetime. The best approach for preoperative transfusion in SCD is still to be determined. In this single-center retrospective study, we included HBSS/HBS-Beta-thalassemia patients younger than 16 years of age who underwent surgery between January 2008 and July 2019. Read More

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http://dx.doi.org/10.1080/08880018.2020.1767738DOI Listing

Spectrum of cerebral arteriopathies in children with arterial ischemic stroke.

Neurology 2020 Jun 26;94(23):e2479-e2490. Epub 2020 May 26.

From the Section of Pediatric Neurology (M.F.R.), Department of Pediatrics and Child Health, University of Manitoba, Children's Hospital Research Institute of Manitoba, Winnipeg, Canada; Department of Neurology and Pediatrics (K.A.S., H.J.F.), University of California, San Francisco; University of Toronto (A.-M.S.); Division of Neurology (G.A.d.V., N.D., A.L.), The Hospital for Sick Children, University of Toronto, Ontario; Department of Pediatrics and Clinical Neurosciences (A.K.), Cumming School of Medicine, University of Calgary, Alberta, Canada; Department of Neurology (C.A.-L.), University of Washington, Seattle; Department of Neuropediatrics (B.W.), Charité University Medicine Berlin, Germany; Department of Neurology (J.L.C.), George Washington University, Washington, DC; Department of Neurology (M.T.M.), Royal Children's Hospital Melbourne, Murdoch Children's Research Institute and University of Melbourne, Australia; Boston Children's Hospital (M.R.), Harvard Medical School, Boston, MA; and Division of Child Neurology (T.J.B.), Department of Pediatrics and the Hemophilia and Thrombosis Center, University of Colorado, Denver.

Objective: To determine that children with arterial ischemic stroke (AIS) due to an identifiable arteriopathy are distinct from those without arteriopathy and that each arteriopathy subtype has unique and recognizable clinical features.

Methods: We report a large, observational, multicenter cohort of children with AIS, age 1 month to 18 years, enrolled in the International Pediatric Stroke Study from 2003 to 2014. Clinical and demographic differences were compared by use of the Fisher exact test, with linear step-up permutation min- adjustment for multiple comparisons. Read More

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http://dx.doi.org/10.1212/WNL.0000000000009557DOI Listing

Placental histopathology in sickle cell disease: A descriptive and hypothesis-generating study.

Placenta 2020 Jun 17;95:9-17. Epub 2020 Apr 17.

Mount Sinai Hospital, Department of Obstetrics and Gynaecology, Division of Maternal-Fetal Medicine, Toronto, Canada; University of Toronto, Department of Medicine, Toronto, Canada; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Canada.

Introduction: Abnormal placental development is a unifying factor amongst many adverse pregnancy outcomes (APOs) in Sickle Cell Disease (SCD). Our aim was to describe placental histopathologic findings in women with SCD and their relationship with APOs, and to explore the association between antenatal sonographic findings and placental pathology.

Methods: Retrospective single-centre case series of all pregnant women with SCD (January 2000-December 2017), pregnancy beyond 20 weeks' gestation, and available placenta histopathology. Read More

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http://dx.doi.org/10.1016/j.placenta.2020.04.003DOI Listing