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"Sickle Cell Disease"

Kathryn E Flynn, Harald Kliems, Nikita Saoji, Jacob Svenson, Elizabeth D Cox
BACKGROUND: Families play a critical role in supporting the health and well-being of children with chronic illnesses, who face a lifetime of responsibility for self-management of their condition. Our goal was to investigate whether the novel Patient-Reported Outcomes Measurement Information System® (PROMIS®) Pediatric Family Relationships measure, developed primarily within the general pediatric population, reflects the experiences of family relationships for chronically ill children and their parents...
October 19, 2018: Health and Quality of Life Outcomes
Katherine M Kidwell, James Peugh, Emilie Westcott, Cara Nwankwo, Maria T Britto, Charles T Quinn, Lori E Crosby
OBJECTIVE: To examine the acceptability, feasibility, and efficacy of a health care portal. OBSERVATIONS: Adolescents and young adults with sickle cell disease were taught how to use sickle cell disease conditions page in MyChart and completed questionnaires at baseline, postintervention (T2, 6 wk after baseline) and after 3 months (T3). In total, 44 participants (M age=18.82, SD=2.72) viewed an average of 58.07 pages from T1 to T2. The portal was highly accepted (90...
October 18, 2018: Journal of Pediatric Hematology/oncology
Srikanth Nagalla, Samir K Ballas
BACKGROUND: Sickle cell disease is an inherited disorder of hemoglobin, resulting in abnormal red blood cells. These are rigid and may block blood vessels leading to acute painful crises and other complications. Recent research has focused on therapies to rehydrate the sickled cells by reducing the loss of water and ions from them. Little is known about the effectiveness and safety of such drugs. This is an updated version of a previously published review. OBJECTIVES: To assess the relative risks and benefits of drugs to rehydrate sickled red blood cells...
October 19, 2018: Cochrane Database of Systematic Reviews
Ségolène Roemer, Ciara Bergin, Pierre-Francois Kaeser, Aude Ambresin
PURPOSE: This study aims at describing the macular vascular features of the eyes of pediatric patients with the homozygous form of sickle cell disease (SCD) using optical coherence tomography angiography. METHODS: This is a retrospective case series of eyes of pediatric patients with SCD, race- and age-matched to those of healthy individuals. Using optical coherence tomography angiography images of superficial capillary plexus and deep capillary plexus, the nonflow area, vascular density, and foveal avascular zone were measured...
October 16, 2018: Retina
Stephan Lobitz, Paul Telfer, Elena Cela, Bichr Allaf, Michael Angastiniotis, Carolina Backman Johansson, Catherine Badens, Celeste Bento, Marelle J Bouva, Duran Canatan, Matthew Charlton, Cathy Coppinger, Yvonne Daniel, Marianne de Montalembert, Patrick Ducoroy, Elena Dulin, Ralph Fingerhut, Claudia Frömmel, Marina García-Morin, Béatrice Gulbis, Ute Holtkamp, Baba Inusa, John James, Marina Kleanthous, Jeannette Klein, Joachim B Kunz, Lisa Langabeer, Claudine Lapouméroulie, Ana Marcao, José L Marín Soria, Corrina McMahon, Kwaku Ohene-Frempong, Jean-Marc Périni, Frédéric B Piel, Giovanna Russo, Laura Sainati, Markus Schmugge, Allison Streetly, Leon Tshilolo, Charles Turner, Donatella Venturelli, Laura Vilarinho, Rachel Yahyaoui, Jacques Elion, Raffaella Colombatti
Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European health care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures and has contributed to a reduction in childhood mortality from SCD. Policies and methodologies for NBS vary in different countries, and this might have consequences for the quality of care and clinical outcomes for SCD across Europe. A two-day Pan-European consensus conference was held in Berlin in April 2017 in order to appraise the current status of NBS for SCD and to develop consensus-based statements on indications and methodology for NBS for SCD in Europe...
October 18, 2018: British Journal of Haematology
Sebastian Vogel, Taruna Arora, Xunde Wang, Laurel Mendelsohn, James Nichols, Darlene Allen, Arun S Shet, Christian A Combs, Zenaide M N Quezado, Swee Lay Thein
A key inflammatory mechanism recently identified in platelets involves the Nod-like receptor nucleotide-binding domain leucine-rich repeat containing protein 3 (NLRP3) and Bruton tyrosine kinase (BTK), which control activation of caspase-1 within inflammasome complexes. We investigated platelet caspase-1 activity in the context of sickle cell disease (SCD) directly in platelets isolated from SCD patients (n = 24) and indirectly by incubating platelets from healthy subjects with plasma obtained from SCD patients (n = 20), both in steady state and during an acute pain crisis (paired samples)...
October 23, 2018: Blood Advances
Dagmar Pattloch
BACKGROUND: Sickle cell disease (SCD, ICD-10:D57) is a hemoglobinopathy of global public health relevance. As an autosomal recessive genetic disorder, it affects 70-150 newborns in Germany per year (1-2 per 10,000). Early detection during the asymptomatic first 3 months of life would meet national treatment recommendations and prevent disease sequelae. OBJECTIVES: Objectives are 1) to measure the prevalence of SCD in newborns in the AOK's claims data, 2) to determine the age at first diagnosis D57, and 3) to count typical hospitalizations...
October 17, 2018: Das Gesundheitswesen
Prithu Sundd, Mark T Gladwin, Enrico M Novelli
Since the discovery of sickle cell disease (SCD) in 1910, enormous strides have been made in the elucidation of the pathogenesis of its protean complications, which has inspired recent advances in targeted molecular therapies. In SCD, a single amino acid substitution in the β-globin chain leads to polymerization of mutant hemoglobin S, impairing erythrocyte rheology and survival. Clinically, erythrocyte abnormalities in SCD, manifest in hemolytic anemia and cycles of microvascular vaso-occlusion leading to endorgan ischemia-reperfusion injury and infarction...
October 17, 2018: Annual Review of Pathology
Tara Bopp, Caroline Stephan, Kaveh Samii, Jérôme Stirnemann
The acute chest syndrome is a frequent complication in patients with sickle cell disease. It results from the occlusion of pulmonary capillaries and complex pathophysiological mechanisms. The diagnosis of an acute chest syndrome includes bilateral infiltrates on x-ray, along with fever or respiratory symptoms. The appropriate medical treatment includes hydration, analgesics, oxygen, broad-spectrum antibiotics that cover atypical bacteria and transfusions or exchange transfusion.
October 17, 2018: Revue Médicale Suisse
Robert M Cronin, Tim Lucas Dorner, Amol Utrankar, Whitney Allen, Mark Rodeghier, Adetola A Kassim, Gretchen Purcell Jackson, Michael R DeBaun
Objective: Recurrent vaso-occlusive pain episodes, the most common complication of sickle cell disease (SCD), cause frequent health care utilization. Studies exploring associations between patient activation and acute health care utilization for pain are lacking. We tested the hypothesis that increased activation and self-efficacy are associated with decreased health care utilization for pain in SCD. Methods: In this cross-sectional study of adults with SCD at a tertiary medical center, we collected demographics, SCD phenotype, Patient Activation Measure levels, and self-efficacy scores using structured questionnaires...
October 16, 2018: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
Michael J Simmonds, Silvie Suriany, Derek Ponce, Jon A Detterich
BACKGROUND: Sickle cell disease (SCD) is a genetically inherited hemoglobinopathy in which deoxygenated hemoglobin S polymerizes, leading to stiff red blood cells (RBCs) and inefficient microcirculatory blood flow. Transfusion therapy acts as primary and secondary prevention of ischemic stroke in SCD. Whether blood transfusion alters the mechanical sensitivity (MS) of RBCs to prolonged subhemolytic shear stress (shear) is unknown. We hypothesized that individuals with SCD undergoing long-term blood transfusion would have improved sensitivity to shear, compared with patients not undergoing transfusion therapy...
October 16, 2018: Transfusion
Zulema Romero, Mark DeWitt, Mark C Walters
Sickle cell anemia (SCA) is a hereditary blood disease caused by a single-gene mutation that affects millions of individuals world-wide. In this review, we focus on techniques to treat SCA by ex vivo genetic manipulation of hematopoietic stem/progenitor cells (HSPCs), emphasizing replacement gene therapy and gene editing. Areas covered: Viral transduction of an anti-sickling β-like globin gene has been tested in pre-clinical and early-phase clinical studies, and shows promising preliminary results. Targeted editing of endogenous genes by site-directed nucleases has been developed more recently, and several approaches also are nearing clinical translation...
October 16, 2018: Expert Opinion on Biological Therapy
Pratibha Issar, Maya Nehra, Gurmeet Singh, S K Issar
Background: Sickle cell disease (SCD) is an autosomal recessive hemolytic disorder; its cerebrovascular complications include silent cerebral ischemia, infarct, and brain atrophy. Conventional magnetic resonance imaging (MRI) often underestimates the extent of injury. Diffusion tensor imaging (DTI) can demonstrate and quantify microstructural brain changes in SCD cases having normal routine MRI. Objective: To identify various neurological abnormalities in asymptomatic sickle cell patients using routine MRI and to evaluate the microstructure of various regions of the brain using DTI...
July 2018: Indian Journal of Radiology & Imaging
A Barton-Gooden, M Grindley, J Knight-Madden, M Asnani
The current study examines gender effects on disease knowledge and quality of life in adolescents with sickle cell disease (SCD) in Jamaica. We report the baseline results on 76 girls and 74 boys with mean age (16.9 ± 1.8 vs. 16.2 ±2.0 years), recruited in a larger intervention study. Girls had higher knowledge scores (15.3 ± 4.2 vs. 13.3 ± 4.2 p=.004), poorer overall QOL scores (70.1 ± 19.6 vs. 77.2 ± 17.8 p=0.02) but similar severity scores to boys. Girls also had significantly lower scores on many QOL domain scores: Pain occurrences over the course the past month (Pain and Hurt:77...
October 15, 2018: Psychology, Health & Medicine
Romain Guery, Anoosha Habibi, Jean-Benoît Arlet, François Lionnet, Victoire de Lastours, Jean-Winoc Decousser, Jean-Luc Mainardi, Keyvan Razazi, Laurence Baranes, Pablo Bartolucci, Bertrand Godeau, Fréderic Galacteros, Marc Michel, Matthieu Mahevas
BACKGROUND: Non-typhoidal salmonellosis (NTS) often occurs in children with sickle-cell disease (SCD) and remains a significant cause of mortality in developing countries. However, there is lack of reports on the clinical presentation, outcome and complications of NTS in adults with SCD. METHODS: We performed a chart review between 2006 and 2016 of adults SCD diagnosed with NTS in 3 referral centers monitoring approximately 3500 SCD adults. RESULTS: Twenty-three episodes of NTS were diagnosed among 22 SCD adults...
October 14, 2018: Infectious Diseases
Tonya M Palermo, William T Zempsky, Carlton D Dampier, Chitra Lalloo, Amos S Hundert, Lexa K Murphy, Nitya Bakshi, Jennifer N Stinson
Many adolescents with sickle cell disease (SCD) experience recurrent and chronic pain, which has a negative impact on their health-related quality of life (HRQL). Cognitive-behavioral therapy (CBT) interventions can lead to improvement in pain and HRQL, yet due to barriers to care, most youth with SCD will not receive these interventions. To address this need for innovative programs targeting youth with SCD pain, we developed iCanCope, a tailored smartphone and web-based program that delivers a pain self-management intervention to youth with SCD...
October 11, 2018: Contemporary Clinical Trials
Aimee W Smith, Prasad Bodas, Lisa Sidebotham, JoEllen Weilnau, Beth Wildman
INTRODUCTION: Sickle cell disease (SCD) can shorten lives and may result in severe clinical complications. Hydroxyurea (HU) is inexpensive, widely available, and National Institutes of Health (NIH) recommends HU for SCD. Despite these benefits, utilization of HU is low. Barriers to taking HU include inaccurate perceptions of serious side effects such as hair loss, a significant barrier in the African American community. However, at doses for treating SCD, the incidence of side effects is extremely low...
October 9, 2018: Journal of the National Medical Association
Fenella J Kirkham, Karin Shmueli
No abstract text is available yet for this article.
October 11, 2018: Blood
John D Belcher, Edward Gomperts, Julia Nguyen, Chunsheng Chen, Fuad Abdulla, Zachary M Kiser, David Gallo, Howard Levy, Leo E Otterbein, Gregory M Vercellotti
Carbon monoxide (CO) at low, non-toxic concentrations has been previously demonstrated to exert anti-inflammatory protection in murine models of sickle cell disease (SCD). However CO delivery by inhalation, CO-hemoglobin infusion or CO-releasing molecules presents problems for daily CO administration. Oral administration of a CO-saturated liquid avoids many of these issues and potentially provides a platform for self-administration to SCD patients. To test if orally-delivered CO could modulate SCD vaso-occlusion and inflammation, a liquid CO formulation (HBI-002) was administered by gavage (10 ml/kg) once-daily to NY1DD and Townes-SS transgenic mouse models of SCD...
2018: PloS One
Marco Zaffanello, Franco Antoniazzi, Laura Tenero, Luana Nosetti, Michele Piazza, Giorgio Piacentini
Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. In children with genetic diseases, the clinical symptoms of OSAS are often slight or absent, and related morbidities are usually more severe and can be observed at any age...
September 2018: Annals of Translational Medicine
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