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"Sickle Cell Disease"

Patricia Fitzpatrick, Catherine Fitzgerald, Rebecca Somerville, Barry Linnane
BACKGROUND: There is little known regarding how familiar parents are with the newborn bloodspot screening (NBS) test or how well parents of a child with a screen-detected condition understand that condition initially. AIM: The study aim was to examine parental NBS awareness and conditions screened. METHODS: Two studies were conducted: [1] Parents of children with cystic fibrosis (CF) detected via NBS and subsequently, diagnosed (n = 124) completed a telephone questionnaire regarding information they received at the time of NBS...
December 15, 2018: Irish Journal of Medical Science
Ruchika Sharma, Gary M Woods, Susan Creary, Sarah O'Brien, Joseph Stanek, Kan Hor, Christina Gallagher, Amy L Dunn, Riten Kumar
Venous thromboembolism (VTE) is being increasingly recognized in children with sickle cell disease (SCD). In a retrospective cohort study, we identified bilateral central venous catheter (CVC) placement as an independent risk factor for VTE. At our institution, the only indication for bilateral CVC placement in children with SCD is erythrocytapheresis. To investigate the impact of erythrocytapheresis on coagulation, we measured levels of natural anticoagulants in 11 patients with SCD on chronic erythrocytapheresis, immediately before and after apheresis...
December 13, 2018: Pediatric Blood & Cancer
Anna Nowogrodzki
No abstract text is available yet for this article.
December 2018: Nature
Augustina Frimpong, Laty Gaye Thiam, Benjamin Arko-Boham, Ewurama Dedea Ampadu Owusu, George O Adjei
BACKGROUND: About 80% of all reported sickle cell disease (SCD) cases in children anually are recorded in Africa. Although malaria is considered a major cause of death in SCD children, there is limited data on the safety and effectiveness of the available antimalarial drugs used for prophylaxis. Also, previous systematic reviews have not provided quantitative measures of preventive effectiveness. The purpose of this research was to conduct a systematic review and meta-analysis of the available literature to determine the safety and effectiveness of antimalarial chemoprophylaxis used in SCD patients...
December 12, 2018: BMC Infectious Diseases
Amanda Cristina da Silva de Jesus, Tulio Konstantyner, Ianna Karolina Véras Lôbo, Josefina Aparecida Pellegrini Braga
OBJECTIVE: To describe the socioeconomic and nutritional characteristics of children and adolescents with sickle cell anemia. DATA SOURCES: The present study is a systematic literature review based on published scientific articles. The searches were carried out using the electronic database of the National Library of Medicine, National Institutes of Health- PubMed. Two searches of articles published in the last 20years and without limitation of language were carried out...
October 2018: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
Victoria Mitre, Danielle Brown, Thuy Phung, Raegan D Hunt
A pseudoxanthoma elasticum (PXE)-like phenotype develops in a subset of patients with inherited hemoglobinopathies. Although PXE tissue changes are thought to develop in the absence of ABCC6 mutations in patients with beta-thalassemia, ABCC6 mutations have not been well evaluated among sickle cell disease patients with PXE-like disease. To our knowledge, we describe the first patient with sickle cell disease, PXE skin findings, and two confirmed pathogenic ABCC6 mutations. This case suggests that ABCC6 testing is warranted for sickle cell disease patients with the PXE-like phenotype and that the pathogenesis of PXE manifestations in beta-thalassemia and sickle cell disease may differ...
December 9, 2018: Pediatric Dermatology
Valentina Poletti, Fabrizia Urbinati, Sabine Charrier, Guillaume Corre, Roger P Hollis, Beatriz Campo Fernandez, Samia Martin, Michael Rothe, Axel Schambach, Donald B Kohn, Fulvio Mavilio
Sickle cell disease (SCD) is caused by a mutation (E6V) in the hemoglobin (Hb) β-chain that induces polymerization of Hb tetramers, red blood cell deformation, ischemia, anemia, and multiple organ damage. Gene therapy is a potential alternative to human leukocyte antigen (HLA)-matched allogeneic hematopoietic stem cell transplantation, available to a minority of patients. We developed a lentiviral vector expressing a β-globin carrying three anti-sickling mutations (T87Q, G16D, and E22A) inhibiting axial and lateral contacts in the HbS polymer, under the control of the β-globin promoter and a reduced version of the β-globin locus-control region...
December 14, 2018: Molecular Therapy. Methods & Clinical Development
Yongzhi Qiu, Byungwook Ahn, Yumiko Sakurai, Caroline Hansen, Reginald Tran, Patrice N Mimche, Robert Mannino, Jordan C Ciciliano, Tracey J Lamb, Clinton H Joiner, Solomon F Ofori-Acquah, Wilbur A Lam
Alterations in the mechanical properties of erythrocytes occurring in inflammatory and hematologic disorders such as sickle cell disease (SCD) and malaria often lead to increased endothelial permeability, haemolysis, and microvascular obstruction. However, the associations among these pathological phenomena remain unknown. Here, we report a perfusable, endothelialized microvasculature-on-a-chip featuring an interpenetrating-polymer-network hydrogel that recapitulates the stiffness of blood-vessel intima, basement membrane self-deposition and self-healing endothelial barrier function for longer than 1 month...
2018: Nature Biomedical Engineering
Michael R DeBaun, Djamila L Ghafuri, Mark Rodeghier, Poulami Maitra, Shruti Chaturvedi, Adetola Kassim, Kenneth I Ataga
No abstract text is available yet for this article.
December 10, 2018: Blood
Aymeric Menet, Brigitte Ranque, Ibrahima Bara Diop, Samuel Kingue, Roland N'guetta, Mamadou Diarra, Dapa Diallo, Saliou Diop, Ibrahima Diagne, Ibrahima Sanogo, David Chelo, Guillaume Wamba, Indou Deme-Ly, Blaise Felix Faye, Moussa Seck, Aissata Tolo, Kouakou Boidy, Gustave Koffi, Eli Cochise Abough, Cheick Oumar Diakite, Youssouf Traore, Gaëlle Legueun, Ismael Kamara, Lucile Offredo, Sylvestre Marechaux, Mariana Mirabel, Xavier Jouven
Background: Several studies conducted in America or Europe have described major cardiac remodeling and diastolic dysfunction in patients with sickle cell disease (SCD). We aimed at assessing cardiac involvement in SCD in sub-Saharan Africa where SCD is the most prevalent. Methods: In Cameroon, Mali and Senegal, SCD patients and healthy controls of the CADRE study underwent transthoracic echocardiography if aged ≥10 years. The comparison of clinical and echocardiographic features between patients and controls, and the associations between echocardiographic features and the vascular complications of SCD were assessed...
2018: Frontiers in Medicine
Lena Václavů, Benoit N Meynart, Henk Jmm Mutsaerts, Esben Thade Petersen, Charles Blm Majoie, Ed T VanBavel, John C Wood, Aart J Nederveen, Bart J Biemond
Sickle cell disease is characterized by chronic hemolytic anemia and vascular inflammation, which can diminish the vasodilatory capacity of the small resistance arteries, making them less adept at regulating cerebral blood flow. Autoregulation maintains adequate oxygen delivery, but when vasodilation is maximized, the low arterial oxygen content can lead to ischemia and silent cerebral infarcts. We used magnetic resonance imaging of cerebral blood flow to quantify whole-brain cerebrovascular reserve in 36 adult patients with sickle cell disease (mean age, 31...
December 6, 2018: Haematologica
Karl A Nath, S Vincent Rajkumar
No abstract text is available yet for this article.
December 2018: Mayo Clinic Proceedings
Friday Odey, Uduak Okomo, Angela Oyo-Ita
BACKGROUND: Salmonella infections are a common bacterial cause of invasive disease in people with sickle cell disease especially children, and are associated with high morbidity and mortality rates. Although available in some centres, people with sickle cell anaemia are not routinely immunized with salmonella vaccines. This is an update of a previously published Cochrane Review. OBJECTIVES: To determine whether routine administration of salmonella vaccines to people with sickle cell disease reduces the morbidity and mortality associated with infection...
December 5, 2018: Cochrane Database of Systematic Reviews
Hugo Nivaldo Melo, Simone Joanna-Maria Stoots, Marijn Aimee Pool, Vitor Oliveira Carvalho, Max Luan De Carvalho Aragão, Ricardo Queiroz Gurgel, Charles Agyemang, Rosana Cipolotti
The aim of this study was to identify the levels of physical activity and sedentary behaviour of children and adolescents with sickle cell disease (SCA) compared to healthy individuals. A cross-sectional study with a quantitative approach was performed at a reference center for the treatment of patients with hemoglobinopathies in northeastern Brazil. Patients were recruited between October 2015 and January 2017. Eligible participants answered a Physical Activity Questionnaire for Older Children and Adolescents (PAQ-C) and were instructed to use an ActiGraph wGT3X-BT triaxial accelerometer for seven consecutive days...
2018: PloS One
Kabir O Olaniran, Nwamaka D Eneanya, Sagar U Nigwekar, Xavier F Vela-Parada, Maureen M Achebe, Amita Sharma, Ravi I Thadhani
BACKGROUND: Compared to the past, patients with sickle cell disease (SCD) currently live longer due to improvements in diagnosis and comprehensive care. Due to these advances, long-term chronic complications pose a greater challenge in the management of patients with SCD. In particular, sickle cell nephropathy (SCN) is associated with significant morbidity and mortality across all age groups. Furthermore, SCN is an understudied condition with relatively few symptoms and therefore requires close surveillance...
December 5, 2018: Blood Purification
Sarah Vieira Figueiredo, Letícia Alexandre Lima, Débora Pena Batista E Silva, Raquel de Maria Carvalho Oliveira, Macedônia Pinto Dos Santos, Ilvana Lima Verde Gomes
OBJECTIVE: To know the main health guidance needs of family members of children with sickle cell disease. METHOD: Qualitative research, developed in a pediatric reference hospital of Ceará State, between April and May 2017, through the participation of 12 family members of children with sickle cell disease. The data were collected through semi-structured interviewees and analyzed according to the Bardin's Thematic Categorical Analysis. RESULTS: The relatives had divergent opinions about what this pathology would be and expressed the expectation of being broadly guided, from general information (signs and symptoms) to more complex ones about the disease, including major complications and ways of preventing them...
November 2018: Revista Brasileira de Enfermagem
Enaam Raboei, Yazeed Owiwi, Alaa Ghallab, Ali Zeinelabdeen, Ameen Alsaggaf, Mazen Zaidan, Mohamed Fayez, Ahmad Alawi, Ahmed Atta, Ahmad Al Fageeh, Khalid Al Fifi, Murad Al Sayegh, Abdulaziz Banaja, Amani Haddad, Ziyad Al Nefai, Turki Aloufi, Shaima Alghamdi, Ibrahim Abdulrahim, Aljawhara Al Manea, Ibrahim Alharbi, Atef Sait, Reemah Fallatah
INTRODUCTION: Few centers worldwide have advanced single-incision pediatric endosurgery (SIPES) splenectomy. The safety and feasibility of SIPES performed by trainees were not assessed before. SIPES splenectomy is a demanding technique that needs high level of skills. This is the largest series of 39 SIPES splenectomies performed by 14 trainees in one single center. AIMS: To assess the safety, feasibility, and technical challenges of SIPES splenectomy performed by trainees and to compare it with other published series...
December 5, 2018: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
Marilyn J Telen, Punam Malik, Gregory M Vercellotti
For over 100 years, clinicians and scientists have been unravelling the consequences of the A to T substitution in the β-globin gene that produces haemoglobin S, which leads to the systemic manifestations of sickle cell disease (SCD), including vaso-occlusion, anaemia, haemolysis, organ injury and pain. However, despite growing understanding of the mechanisms of haemoglobin S polymerization and its effects on red blood cells, only two therapies for SCD - hydroxyurea and L-glutamine - are approved by the US Food and Drug Administration...
December 4, 2018: Nature Reviews. Drug Discovery
John N Chang, Everett F Magann, Sarah A Novotny, Chad E Cooley, C Heath Gauss, Marc R Parrish, John C Morrison
OBJECTIVE: To compare pregnancy outcomes in women with sickle cell disease from recent deliveries with a similar group delivered earlier. METHODS: During a 12-year period (2005-2016), data from pregnant women with hemoglobin SS or SC were collected from three university medical centers and compared with earlier studies (1979-2003) involving similar patients. The primary endpoints were maternal complications during pregnancy and newborn outcomes. RESULTS: There were 278 patients in the control group (1979-2003) compared with 150 patients in the study group (2005-2016)...
December 2018: Southern Medical Journal
Sophie West, Sanjay Karamsadkar, Susan Cross
Segmental testicular infarction is a rare diagnosis and there are few documented cases in the literature. Those cases that have been reported are usually in the setting of epididymitis, hypercoaguable states, vasculitis, sickle cell disease, post orchidopexy or vasectomy, and idiopathic. We report a case of a patient who developed segmental testicular infarction that was managed conservatively, following nephrectomy for a ruptured kidney and the associated ultrasonographic appearances.
February 2019: Radiology Case Reports
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