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https://www.readbyqxmd.com/read/28442996/structural-characteristics-of-simple-rna-repeats-associated-with-disease-and-their-deleterious-protein-interactions
#1
REVIEW
Adam Ciesiolka, Magdalena Jazurek, Karolina Drazkowska, Wlodzimierz J Krzyzosiak
Short Tandem Repeats (STRs) are frequent entities in many transcripts, however, in some cases, pathological events occur when a critical repeat length is reached. This phenomenon is observed in various neurological disorders, such as myotonic dystrophy type 1 (DM1), fragile X-associated tremor/ataxia syndrome, C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), and polyglutamine diseases, such as Huntington's disease (HD) and spinocerebellar ataxias (SCA). The pathological effects of these repeats are triggered by mutant RNA transcripts and/or encoded mutant proteins, which depend on the localization of the expanded repeats in non-coding or coding regions...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28439953/feasibility-trial-for-primary-stroke-prevention-in-children-with-sickle-cell-anemia-in-nigeria-spin-trial
#2
Najibah Galadanci, Shehu Umar Abdullahi, Leah D Vance, Abdulkadir Musa Tabari, Shehi Ali, Raymond Belonwu, Auwal Salihu, Aisha Amal Galadanci, Binta Wudil Jibir, Halima Bello-Manga, Kathleen Neville, Fenella J Kirkham, Yu Shyr, Sharon Phillips, Brittany V Covert, Adetola A Kassim, Lori C Jordan, Muktar H Aliyu, Michael R DeBaun
The vast majority of children with sickle cell anemia (SCA) live in Africa, where evidence-based guidelines for primary stroke prevention are lacking. In Kano, Nigeria, we conducted a feasibility trial to determine the acceptability of hydroxyurea therapy for primary stroke prevention in children with abnormal transcranial Doppler (TCD) measurements. Children with SCA and abnormal non-imaging TCD measurements (≥ 200 cm/s) received moderate fixed-dose hydroxyurea therapy (∼20 mg/kg/day). A comparison group of children with TCD measurements < 200 cm/s was followed prospectively...
April 25, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28438987/major-trauma-from-suspected-child-abuse-a-profile-of-the-patient-pathway
#3
Ffion C Davies, Fiona E Lecky, Ross Fisher, Marisol Fragoso-Iiguez, Tim J Coats
BACKGROUND: Networked organised systems of care for patients with major trauma now exist in many countries, designed around the needs of the majority of patients (90% adults). Non-accidental injury is a significant cause of paediatric major trauma and has a different injury and age profile from accidental injury (AI). This paper compares the prehospital and inhospital phases of the patient pathway for children with suspected abuse, with those accidentally injured. METHODS: The paediatric database of the national trauma registry of England and Wales, Trauma Audit and Research Network, was interrogated from April 2012 (the launch of the major trauma networks) to June 2015, comparing the patient pathway for cases of suspected child abuse (SCA) with AI...
April 24, 2017: Emergency Medicine Journal: EMJ
https://www.readbyqxmd.com/read/28438224/early-strong-intrathecal-inflammation-in-cerebellar-type-multiple-system-atrophy-by-cerebrospinal-fluid-cytokine-chemokine-profiles-a-case-control-study
#4
Ryo Yamasaki, Hiroo Yamaguchi, Takuya Matsushita, Takayuki Fujii, Akio Hiwatashi, Jun-Ichi Kira
BACKGROUND: The pathology of multiple system atrophy cerebellar-type (MSA-C) includes glial inflammation; however, cerebrospinal fluid (CSF) inflammatory cytokine profiles have not been investigated. In this study, we determined CSF cytokine/chemokine/growth factor profiles in MSA-C and compared them with those in hereditary spinocerebellar ataxia (SCA). METHODS: We collected clinical data and CSF from 20 MSA-C patients, 12 hereditary SCA patients, and 15 patients with other non-inflammatory neurological diseases (OND), and measured 27 cytokines/chemokines/growth factors using a multiplexed fluorescent bead-based immunoassay...
April 24, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28436588/reduced-erg-dosage-impairs-survival-of-hematopoietic-stem-and-progenitor-cells
#5
Ying Xie, Mia Lee Koch, Xin Zhang, Melanie J Hamblen, Frank J Godinho, Yuko Fujiwara, Huafeng Xie, Jan-Henning Klusmann, Stuart H Orkin, Zhe Li
ERG, an ETS family transcription factor frequently overexpressed in human leukemia, has been implicated as a key regulator of hematopoietic stem cells. However, how ERG controls normal hematopoiesis, particularly at the stem and progenitor cell level, and how it contributes to leukemogenesis remain incompletely understood. Using homologous recombination, we generated an Erg knockdown allele (Erg(kd) ) in which Erg expression can be conditionally restored by Cre recombinase. Erg(kd/kd) animals die at E10.5-E11...
April 24, 2017: Stem Cells
https://www.readbyqxmd.com/read/28435037/therapeutic-strategies-in-sickle-cell-anemia-the-past-present-and-future
#6
REVIEW
Queenie Fernandes
Sickle Cell Anemia (SCA) was one of the first hemoglobinopathies to be discovered. It is distinguished by the mutation-induced expression of a sickle cell variant of hemoglobin (HbS) that triggers erythrocytes to take a characteristic sickled conformation. The complex physiopathology of the disease and its associated clinical complications has initiated multi-disciplinary research within its field. This review attempts to lay emphasis on the evolution, current standpoint and future scope of therapeutic strategies in SCA...
April 20, 2017: Life Sciences
https://www.readbyqxmd.com/read/28432641/dentatorubro-pallidoluysian-atrophy-drpla-among-700-families-with-ataxia-in-brazil
#7
Pedro Braga-Neto, José Luiz Pedroso, Gabriel Vasata Furtado, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando G P Barsottini
Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilian neurology and neurogenetics centers. CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA10 gene were studied. A single DRPLA case detected is reported. Proband was a 69-year-old Brazilian woman of mixed ancestry, with a late-onset pure ataxia: her alleles at the associated gene, ATN1, presented 14/52 CAG repeats...
April 21, 2017: Cerebellum
https://www.readbyqxmd.com/read/28432023/pulmonary-embolism-related-sudden-cardiac-arrest-admitted-alive-at-hospital-management-and-outcomes
#8
Wulfran Bougouin, Eloi Marijon, Benjamin Planquette, Nicole Karam, Florence Dumas, David S Celermajer, Daniel Jost, Lionel Lamhaut, Frankie Beganton, Alain Cariou, Guy Meyer, Xavier Jouven
AIM: Pulmonary Embolism (PE) is a relatively common cardiovascular condition, occasionally and tragically manifesting as Sudden Cardiac Arrest (SCA). The natural history of SCA complicating PE has been poorly evaluated.In this study, we described the management and outcome of PE-related SCA. METHODS: In this prospective population--based study, we included all patients admitted at hospital alive after out- of- hospital SCA, in Paris and suburbs, France (6.6 million inhabits), from May 2011 to September 2015...
April 18, 2017: Resuscitation
https://www.readbyqxmd.com/read/28422540/evaluating-barriers-to-bystander-cpr-among-laypersons-before-and-after-compression-only-cpr-training
#9
Andrew J Bouland, Megan H Halliday, Angela C Comer, Matthew J Levy, Kevin G Seaman, Benjamin J Lawner
OBJECTIVE: Bystander CPR is an essential part of out-of-hospital cardiac arrest (OHCA) survival. EMS and public safety jurisdictions have embraced initiatives to teach compression-only CPR to laypersons in order to increase rates of bystander CPR. We examined barriers to bystander CPR amongst laypersons participating in community compression-only CPR training and the ability of the training to alleviate these barriers. The barriers analyzed include fear of litigation, risk of disease transmission, fear of hurting someone as a result of doing CPR when unnecessary, and fear of hurting someone as a result of doing CPR incorrectly...
April 19, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28422285/hematopoietic-stem-progenitor-cell-differentiation-towards-myeloid-lineage-is-modulated-by-light-light-receptor-signaling
#10
Weikai Chen, Xin Lv, Changlong Liu, Ruoping Chen, Jianhe Liu, Haiyan Dai, Gang-Ming Zou
The cytokine LT-related inducible ligand that competes for glycoprotein D binding to herpesvirus entry mediator on T cells (LIGHT) is a member of the tumor necrosis factor (TNF) superfamily. It is expressed primarily on activated T lymphocytes, and detectable on monocytes, granulocytes, and immune dendritic cells. It mainly plays a role in immune regulation including T cell activation and dendritic cell maturation. We recently reported its role as an inducer in embryonic stem cell differentiation, but its role in regulation of adult stem cell has not been defined...
April 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28422031/the-importance-of-labyrinthine-examination-in-the-prognosis-and-therapy-for-balance-in-spinocerebellar-ataxia
#11
João Henrique Faryniuk, Bianca Simone Zeigelboim, Hélio Afonso Ghizoni Teive, Vinicius Ribas Fo, Paulo Breno Noronha Liberalesso, Jair Mendes Marques
INTRODUCTION: Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases that are characterized by the presence of progressive cerebellar ataxia. OBJECTIVE: Identify vestibular disorders and demonstrate the importance of labyrinthine examination in the prognosis and therapy for balance in patients with SCAs. MATERIALS AND METHODS: The study had a retrospective cross-sectional design and evaluated 57 patients, mean age of 41...
April 19, 2017: International Tinnitus Journal
https://www.readbyqxmd.com/read/28417646/cerebral-hemodynamic-assessment-and-neuroimaging-across-the-lifespan-in-sickle-cell-disease
#12
Lori C Jordan, Michael R DeBaun
Children and adults with sickle cell anemia (SCA) have a higher risk of strokes compared to age- and race-matched peers. Velocity in the middle cerebral or distal internal carotid artery as measured by transcranial Doppler ultrasound is a recognized method to identify children but not adults with SCA at high-risk for first stroke. For both children and adults with SCA that have had a stroke, no methods clearly identify individuals at highest risk of recurrent strokes or an initial silent stroke, the most common neurological injury...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28417035/jaw-osteomyelitis-as-a-complication-of-sickle-cell-anaemia-in-three-omani-patients-case-reports-and-literature-review
#13
Hilal Al-Ismaili, Omar Nasim, Abdulaziz Bakathir
Sickle cell anaemia (SCA) is a common haemoglobinopathy among people from the Middle East, the Afro-Caribbean region, the Mediterranean and East India. While osteomyelitis of the long bones is a well-documented complication of SCA, there are few documented cases of SCA patients presenting with jaw osteomyelitis. We report three SCA patients with chronic jaw osteomyelitis who presented to the Department of Oral Health, Sultan Qaboos University Hospital, Muscat, Oman, between 2009 and 2013. Two of the patients had osteomyelitis of the mandible and the third had osteomyelitis of the maxilla...
February 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/28412236/are-dental-and-jaw-changes-more-prevalent-in-a-brazilian-population-with-sickle-cell-anemia
#14
Halinna Larissa Cruz Correia de Carvalho, José Yagoh Saraiva Rolim, Érika Bárbara Abreu Fonseca Thomaz, Soraia de Fátima Carvalho Souza
OBJECTIVE: The aim of this study was to analyze the prevalence of dental and jaw changes in individuals with sickle cell anemia (SCA) compared with a control group from a Brazilian population. STUDY DESIGN: This was a retrospective cross-sectional study. Participants were divided into 2 groups: SCA and control (123 patients per group). Intraoral periapical radiographs were taken. Changes in bone pattern and dental changes were investigated by using the following radiographic parameters: (1) trabecular bone (step-ladder or spider web); (2) integrity of the lamina dura (loss of sharpness and continuity, partial or complete absence, and increased thickness); and (3) dental changes (pulp chamber, root surface, periapex, dental form, number, and position)...
March 9, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28411526/endovascular-repair-of-a-ruptured-thoracic-aortic-dissection-with-a-right-sided-aortic-arch-a-case-report
#15
Jeremy L Irvan, James R Elmore, Sarah L Flora, Evan J Ryer
BACKGROUND: Emergency treatment of complex aortic pathology is challenging in the setting of a right-sided aortic arch. We report the successful treatment of a ruptured thoracic aortic aneurysm (TAA) in the setting of a Stanford type B aortic dissection (TBAD) and right-sided aortic arch. PRESENTATION OF CASE: The patient is a 66-year-old male with chronic kidney disease (CKD) admitted with right sided chest pain and hypotension. Computed tomography angiography (CTA) revealed a 5cm ruptured TAA in the setting of a TBAD and right-sided aortic arch...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28409011/utility-of-t-wave-amplitude-as-a-non-invasive-risk-marker-of-sudden-cardiac-death-in-hypertrophic-cardiomyopathy
#16
Alan Sugrue, Ammar M Killu, Christopher V DeSimone, Anwar A Chahal, Josh C Vogt, Vaclav Kremen, JoJo Hai, David O Hodge, Nancy G Acker, Jeffrey B Geske, Michael J Ackerman, Steve R Ommen, Grace Lin, Peter A Noseworthy, Peter A Brady
OBJECTIVE: Sudden cardiac arrest (SCA) is the most devastating outcome in hypertrophic cardiomyopathy (HCM). We evaluated repolarisation features on the surface electrocardiogram (ECG) to identify the potential risk factors for SCA. METHODS: Data was collected from 52 patients with HCM who underwent implantable cardioverter defibrillator (ICD) implantation. Leads V2 and V5 from the ECG closest to the time of ICD implant were utilised for measuring the Tpeak-Tend interval (Tpe), QTc, Tpe/QTc, T-wave duration and T-wave amplitude...
2017: Open Heart
https://www.readbyqxmd.com/read/28406128/variations-in-the-%C3%AE-globin-genes-of-sickle-cell-anaemia-patients-in-zaria-northwestern-nigeria
#17
S Awwalu, A I Mamman, A Hassan, L G Dogara, A D Waziri, S M Aminu, A U Musa, H Bello-Manga
CONTEXT: Sickle Cell Anaemia (SCA) is a genetic disorder with a life-long disability, which is of public health importance. The diversity in its clinico-pathologic and laboratory presentations may be due to the interplay between additional genetic differences and environmental factors. The genetic factors may be within the β-globin gene itself, the β-globin gene cluster or elsewhere in the genome. AIM: To characterize the β-globin gene for variations associated with the Sickle Cell mutation...
April 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28401342/tuberculosis-in-children-with-sickle-cell-anaemia-a-retrospective-study-in-french-tertiary-care-centres
#18
Nina Droz, Agathe De Lauzanne, Laurent Holvoet, Florence Missud, Malika Benkerrou, Valentine Brousse, Marie-Hélène Odièvre, Albert Faye, Berengere Koehl
Tuberculosis (TB) and sickle cell anaemia (SCA) may affect the same population of patients, particularly in Africa but also in high-TB incidence areas in developed countries. However, few data are available from children with SCA who develop TB. The aim of this study was to describe the clinical features and outcome of TB diagnosed in children with SCA. We conducted a retrospective, descriptive study in three referral centre of Sickle Cell Disease in Paris, France. We included 11 patients with SCA who develop TB...
April 11, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28399852/association-of-classical-markers-and-establishment-of-the-dyslipidemic-sub-phenotype-of-sickle-cell-anemia
#19
Milena Magalhães Aleluia, Caroline Conceição da Guarda, Rayra Pereira Santiago, Teresa Cristina Cardoso Fonseca, Fábia Idalina Neves, Regiana Quinto de Souza, Larissa Alves Farias, Felipe Araújo Pimenta, Luciana Magalhães Fiuza, Thassila Nogueira Pitanga, Júnia Raquel Dutra Ferreira, Elisângela Vitória Adorno, Bruno Antônio Veloso Cerqueira, Marilda de Souza Gonçalves
BACKGROUND: Sickle cell anemia (SCA) patients exhibit sub-phenotypes associated to hemolysis and vaso-occlusion. The disease has a chronic inflammatory nature that has been also associated to alterations in the lipid profile. This study aims to analyze hematological and biochemical parameters to provide knowledge about the SCA sub-phenotypes previously described and suggest a dyslipidemic sub-phenotype. METHODS: A cross-sectional study was conducted from 2013 to 2014, and 99 SCA patients in steady state were enrolled...
April 11, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28394335/progenitor-t-cell-differentiation-from-hematopoietic-stem-cells-using-delta-like-4-and-vcam-1
#20
Shreya Shukla, Matthew A Langley, Jastaranpreet Singh, John M Edgar, Mahmood Mohtashami, Juan Carlos Zúñiga-Pflücker, Peter W Zandstra
The molecular and cellular signals that guide T-cell development from hematopoietic stem and progenitor cells (HSPCs) remain poorly understood. The thymic microenvironment integrates multiple niche molecules to potentiate T-cell development in vivo. Recapitulating these signals in vitro in a stromal cell-free system has been challenging and limits T-cell generation technologies. Here, we describe a fully defined engineered in vitro niche capable of guiding T-lineage development from HSPCs. Synergistic interactions between Notch ligand Delta-like 4 and vascular cell adhesion molecule 1 (VCAM-1) were leveraged to enhance Notch signaling and progenitor T-cell differentiation rates...
April 10, 2017: Nature Methods
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