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Sickle cell diseases

Daveena Meeks, Susan E Robinson, David Macleod, Eugene Oteng-Ntim
Pregnancy in women with Sickle Cell Disease (SCD) has been linked with an increased incidence of adverse foetal outcomes when compared to women without haemoglobinopathies (HbAA). There's a paucity of data into foetal outcomes for infants born to women with SCD. Customised growth charts have been demonstrated to be better than population-based growth charts at identifying unhealthy small babies. We analysed the mean birth weight and customised birth weight centiles of infants born to mothers with SCD versus mothers with HbAA genotype, to quantify the risk of having a smaller baby...
2016: PloS One
Sathyaseelan Subramaniam, Jennifer H Chao
Sickle cell disease is a chronic hematologic disease with a variety of acute, and often recurring, complications. Vaso-occlusive crisis, a unique but common presentation in sickle cell disease, can be challenging to manage. Acute chest syndrome is the leading cause of death in patients with sickle cell disease, occurring in more than half of patients who are hospitalized with a vaso-occlusive crisis. Uncommon diagnoses in children, such as stroke, priapism, and transient red cell aplasia, occur more frequently in patients with sickle cell disease and necessitate a degree of familiarity with the disease process and its management...
November 2016: Pediatric Emergency Medicine Practice
Ibrahim F Shatat, Suparna Qanungo, Shannon Hudson, Marilyn A Laken, Susan M Hailpern
BACKGROUND: Approximately 20% of children with sickle cell disease (SCD) have microalbuminuria (MA). Very little is known about the progression of MA in children and young adults with SCD. METHODS: In this study, we analyzed 5-year EMR data of 373 children [with ≥2 microalbumin-to-creatinine (MA/Cr) ratio measurements] followed at the Medical University of South Carolina to determine the rate, direction, magnitude, and predictors of MA/Cr change over time. RESULTS: Age range was 1-22 years; mean 10...
2016: Frontiers in Pediatrics
Alem Mehari, Alvin V Thomas, Alicia N Thomas, Mark S Johnson
Pulmonary hypertension (PH) is a leading cause of morbidity and early mortality in adults with sickle cell disease (SCD). However, the prevalence, hemodynamic profile and prognosis of SCD-PH remain controversial and need frequent updates. Pulmonary hypertension determined by right heart catheterization (RHC) occurs in 6% to 10% of adults with SCD. Hemodynamically, SCD-PH may be pre-capillary or post-capillary in nature. The exact etiology is unknown and often multifactorial; hence a thorough diagnostic evaluation following established PH guidelines is essential to determine disease prevalence, etiology and outcomes...
October 20, 2016: Ethnicity & Disease
Marco Pizzi, Fabio Fuligni, Luisa Santoro, Elena Sabattini, Martina Ichino, Rita De Vito, Pietro Zucchetta, Raffaella Colombatti, Laura Sainati, Piergiorgio Gamba, Rita Alaggio
Hereditary spherocytosis (HS) and sickle cell disease (SCD) are associated with splenomegaly and spleen dysfunction in pediatric patients. Scant data exist on possible correlations between spleen morphology and function in HS and SCD. This study aimed to assess the histological and morphometric features of HS and SCD spleens, in order to get possible correlations with disease pathophysiology. In a large series of spleens from SCD, HS and control patients the following parameters were considered: (i) macroscopic features; (ii) lymphoid follicle (LF) density; (iii) presence of peri-follicular marginal zones (MZs); (iv) presence of Gamna-Gandy bodies; (v) density of CD8-positive sinusoids; (vi) density of CD34-positive microvessels; (vii) presence/distribution of fibrosis and SMA-positive myoid cells; (viii) density of CD68-positive macrophages...
October 19, 2016: Human Pathology
Brett Keller, Andrew Faciano, Adey Tsega, Jacqueline Ehrlich
OBJECTIVES: To identify risk factors and describe outcomes for children newly identified with blood lead levels (BLLs) ≥45 µg/dL in New York City (NYC) during 2004-2010 to promote timely identification as well as inform clinical practice and public health policy. STUDY DESIGN: Inclusion criteria were residence in NYC and an elevated confirmatory venous test within 2 weeks of the initial BLL ≥45 µg/dL. Data collected during case coordination of these children were linked with blood testing data and home inspection reports...
October 14, 2016: Journal of Pediatrics
Aikaterini Gravia, Vasiliki Chondrou, Alexandra Kolliopoulou, Alexandra Kourakli, Anne John, Argyris Symeonidis, Bassam R Ali, Argyro Sgourou, Adamantia Papachatzopoulou, Theodora Katsila, George P Patrinos
AIMS: Hemoglobinopathies, particularly β-thalassemia and sickle cell disease, are characterized by great phenotypic variability in terms of disease severity, while notable differences have been observed in hydroxyurea treatment efficacy. In both cases, the observed phenotypic diversity is mostly dependent on the elevated fetal hemoglobin levels, resulting from the persistent fetal globin gene expression in the adult erythroid stage orchestrated by intricate mechanisms that still remain only partly understood...
October 21, 2016: Pharmacogenomics
Susanna A Curtis, Neeraja Danda, Zipora Etzion, Hillel W Cohen, Henny H Billett
INTRODUCTION: White Blood Cell (WBC) count, %HbF, and serum creatinine (Cr), have been identified as markers for increased mortality in sickle cell anemia (SCA) but no studies have examined the significance of longitudinal rate of change in these or other biomarkers for SCA individuals. METHODS: Clinical, demographic and laboratory data from SCA patients seen in 2002 by our hospital system were obtained. Those who were still followed in 2012 (survival cohort) were compared to those who had died in the interim (mortality cohort)...
2016: PloS One
Jennifer Hamm, Lee Hilliard, Thomas Howard, Jeffrey Lebensburger
Traveling to and from university-based clinics is a major health care barrier for children with sickle cell disease in Alabama. To reduce this barrier, the University of Alabama at Birmingham (UAB) developed satellite clinics. This study seeks to determine if these satellite clinics provide a similar level of comprehensive care when compared with the university-based clinic using four surrogate markers: 1) attendance rates, 2) percentage of patients on hydroxyurea, 3) percentage of screening MRIs obtained, and 4) percentage of transcranial dopplers (TCD) completed...
2016: Journal of Health Care for the Poor and Underserved
Maa-Ohui Quarmyne, Wei Dong, Rodney Theodore, Sonia Anand, Vaughn Barry, Olufolake Adisa, Iris D Buchanan, James Bost, Robert C Brown, Clinton H Joiner, Peter A Lane
The clinical efficacy of hydroxyurea in patients with sickle cell anemia (SCA) has been well established. However, data about its clinical effectiveness in practice is limited. We evaluated the clinical effectiveness of hydroxyurea in a large pediatric population using a retrospective cohort, pre-post treatment study design to control for disease severity selection bias. The cohort included children with SCA (SS, Sβ(0) thalassemia) who received care at Children's Healthcare of Atlanta (CHOA) and who initiated hydroxyurea in 2009-2011...
October 19, 2016: American Journal of Hematology
Kelsey E Smith, Jeffrey Schatz
Children with sickle cell disease (SCD) are at risk for working memory deficits due to multiple disease processes. We assessed working memory abilities and related functions in 32 school-age children with SCD and 85 matched comparison children using Baddeley's working memory model as a framework. Children with SCD performed worse than controls for working memory, central executive function, and processing/rehearsal speed. Central executive function was found to mediate the relationship between SCD status and working memory, but processing speed did not...
October 19, 2016: Developmental Neuropsychology
Shannon Kelly, Keith Quirolo, Anne Marsh, Lynne Neumayr, Alicia Garcia, Brian Custer
BACKGROUND: Chronic red blood cell (RBC) transfusion therapy (CTT) is an integral component of the management of severe sickle cell disease (SCD) and can prevent complications, such as stroke. RBC units can be administered via simple transfusion or exchange transfusion, and erythrocytapheresis (automated RBC exchange transfusion [aRBX]), is increasingly used for CTT. Comparisons of simple and aRBX transfusions are limited, and the current scope of aRBX use is not known. STUDY DESIGN AND METHODS: We administered a survey to define current transfusion practices for CTT and performed a review of the erythrocytapheresis literature...
October 19, 2016: Transfusion
Kyungho Kim, Jing Li, Andrew Barazia, Alan Tseng, Seock-Won Youn, Giovanni Abbadessa, Yi Yu, Brian Schwartz, Robert K Andrews, Victor R Gordeuk, Jaehyung Cho
Previous studies identified the Ser/Thr protein kinase, AKT, as a therapeutic target for thromboinflammatory diseases. Here we report that specific inhibition of AKT with ARQ 092, an orally-available AKT inhibitor currently in Phase Ib clinical trials as an anti-cancer drug, attenuates the adhesive function of neutrophils and platelets from sickle cell disease patients in vitro and cell-cell interactions in a mouse model of sickle cell disease. Studies using neutrophils and platelets isolated from sickle cell disease patients revealed that treatment with 50-500 nM ARQ 092 significantly blocks αMβ2 integrin function in neutrophils and reduces P-selectin exposure and glycoprotein Ib/IX/V-mediated agglutination in platelets...
October 6, 2016: Haematologica
Kobina Dufu, Josh Lehrer-Graiwer, Eleanor Ramos, Donna Oksenberg
In sickle cell trait (SCT), hemoglobin A (HbA) and S (HbS) are co-expressed in each red blood cell (RBC). While homozygous expression of HbS (HbSS) leads to polymerization and sickling of RBCs resulting in sickle cell disease (SCD) characterized by hemolytic anemia, painful vaso-occlusive episodes and shortened life-span, SCT is considered a benign condition usually with minor or no complications related to sickling. However, physical activities that cause increased tissue oxygen demand, dehydration and/or metabolic acidosis leads to increased HbS polymerization and life-threatening complications including death...
September 28, 2016: Hematology Reports
Abel Makubi, Philip Sasi, Mariam Ngaeje, Enrico M Novelli, Bruno P Mmbando, Mark T Gladwin, Julie Makani
BACKGROUND: Hydroxyurea (HU) has been demonstrated to be efficacious in reducing complications in individuals with sickle cell anemia (SCA) but poor adherence is a barrier. Directly Observed Therapy (DOT) has been shown to improve adherence in various chronic diseases but there is limited data in adults with SCA. METHODS AND DESIGN: To examine the effect of mobile-directly observed therapy (mDOT) on adherence to HU (mDOT-HuA) in adults with SCA at Muhimbili National Hospital in Tanzania...
October 18, 2016: BMC Medical Research Methodology
Mir A Hossain, Yong Shen, Isaac Knudson, Shaleen Thakur, Jared R Stees, Yi Qiu, Betty S Pace, Kenneth R Peterson, Jörg Bungert
Reactivation of γ-globin expression has been shown to ameliorate disease phenotypes associated with mutations in the adult β-globin gene, including sickle cell disease. Specific mutations in the promoter of the γ-globin genes are known to prevent repression of the genes in the adult and thus lead to hereditary persistence of fetal hemoglobin. One such hereditary persistence of fetal hemoglobin is associated with a sequence located 567 bp upstream of the Gγ-globin gene which assembles a GATA-containing repressor complex...
October 18, 2016: Molecular Therapy. Nucleic Acids
Robert G Salomon
Our research on the roles of lipid oxidation in human disease is guided by chemical intuition. For example, we postulated that 2-(ω-carboxyethyl)pyrrole (CEP) derivatives of primary amines would be produced through covalent adduction of a γ-hydroxyalkenal generated, in turn, through oxidative fragmentation of docosahexaenoates. Our studies confirmed the natural occurrence of this chemistry, and the biological activities of these natural products and their extensive involvements in human physiology (wound healing) and pathology (age-related macular degeneration, autism, atherosclerosis, sickle cell disease and tumor growth) continue to emerge...
October 17, 2016: Chemical Research in Toxicology
Jesse J Jung, Michael H Chen, Caroline R Frambach, Soraya Rofagha, Scott S Lee
PURPOSE: To compare the spectral domain and swept source optical coherence tomography angiography findings in two cases of sickle cell maculopathy. METHODS: A 53-year-old man and a 24-year-old man both with sickle cell disease (hemoglobin SS) presented with no visual complaints; Humphrey visual field testing demonstrated asymptomatic paracentral scotomas that extended nasally in the involved eyes. Clinical examination and multimodal imaging including spectral domain and swept source optical coherence tomography, and spectral domain optical coherence tomography angiography and swept source optical coherence tomography angiography (Carl Zeiss Meditec Inc, Dublin, CA) were performed...
October 5, 2016: Retinal Cases & Brief Reports
David C Rees, Valentine A M Brousse
No abstract text is available yet for this article.
June 2016: Indian Journal of Medical Research
Georgios Tsivgoulis, Andrei V Alexandrov
PURPOSE OF REVIEW: Low cost, avoidance of irradiation, and high temporal resolution are inherent advantages of ultrasound imaging that translate into multiple clinical uses in many domains of neurology. This article presents clinical uses of ultrasound examination in cerebrovascular, neurodegenerative, and peripheral nervous system diseases. RECENT FINDINGS: Modern treatment and prevention of ischemic stroke rely on prompt diagnosis. Ultrasonography has found a place as a noninvasive screening test and bedside technique that provides estimates of the degree of stenosis as well as hemodynamic and structural information about intracranial and extracranial vessels in real time...
October 2016: Continuum: Lifelong Learning in Neurology
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