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S O Edeki, O O Akanbi
The datasets contained in this article are simulated data with respect to Sickle Cell Anaemia (SCA) in order to examine the mathematical inheritance formation of the SCA disease. The simulation is done using Monte Carlos Simulation (MCS) Technique to complement the Physical Simulation Smith's Statistical (PSSS) package used as random number generator for birth simulation. One hundred and fifty-six (156) births for seven (7) generations were considered in the simulation alongside non-gestating reproductive females with fertile male adults while immigration and emigration are not permitted...
February 2018: Data in Brief
Albert Ariza-Solé, Carme Guerrero, Francesc Formiga, Jaime Aboal, Emad Abu-Assi, Francisco Marín, Héctor Bueno, Oriol Alegre, Ramón López-Palop, María T Vidán, Manuel Martínez-Sellés, Pablo Díez-Villanueva, Pau Vilardell, Alessandro Sionis, Miquel Vives-Borrás, Juan Sanchís, Jordi Bañeras, Agnès Rafecas, Cinta Llibre, Javier López, Violeta González-Salvado, Àngel Cequier
BACKGROUND:  Bleeding risk scores have shown a limited predictive ability in elderly patients with acute coronary syndromes (ACS). No study explored the role of a comprehensive geriatric assessment to predict in-hospital bleeding in this clinical setting. METHODS:  The prospective multicentre LONGEVO-SCA registry included 532 unselected patients with non-ST segment elevation ACS (NSTEACS) aged 80 years or older. Comorbidity (Charlson index), frailty (FRAIL scale), disability (Barthel index and Lawton-Brody index), cognitive status (Pfeiffer test) and nutritional risk (mini nutritional assessment-short form test) were assessed during hospitalization...
March 2018: Thrombosis and Haemostasis
Laura Alice Santos de Oliveira, Camilla Polonini Martins, Carlos Henrique Ramos Horsczaruk, Débora Cristina Lima da Silva, Luiz Felipe Vasconcellos, Agnaldo José Lopes, Míriam Raquel Meira Mainenti, Erika de Carvalho Rodrigues
Background and Purpose: The motor impairments related to gait and balance have a huge impact on the life of individuals with spinocerebellar ataxia (SCA). Here, the aim was to assess the possibility of retraining gait, improving cardiopulmonary capacity, and challenging balance during gait in SCA using a partial body weight support (BWS) and a treadmill. Also, the effects of this training over functionality and quality of life were investigated. Methods: Eight SCA patients were engaged in the first stage of the study that focused on gait training and cardiovascular conditioning...
2018: Rehabilitation Research and Practice
Adekunle Emmanuel Alagbe, John Ayodele Olaniyi, Oladapo Wale Aworanti
Background and Objectives: Inflammatory markers that influence bone pain crisis (BPC) and other complications of sickle cell anaemia (SCA) are numerous and play various roles. This study determined the plasma levels of tumour necrosis factor (TNF) - α, interleukin - 8 (IL-8), and endothelin - 1 (ET-1) in adult SCA patients during BPC and in steady state. In addition, the plasma levels of these cytokines were correlated with the severity of BPC of the patients. Methods and Materials: Sixty adult SCA patients (30 during BPC and 30 during steady state) and 30 haemoglobin A controls were enrolled for this cross-sectional study...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Isabela Cristina Cordeiro Farias, Taciana Furtado Mendonça-Belmont, Andreia Soares da Silva, Kleyton Palmeira do Ó, Felipe Ferreira, Fernanda Silva Medeiros, Luydson Richardson da Silva Vasconcelos, Marcos André Cavalcanti Bezerra, Aderson da Silva Araújo, Patricia Muniz Mendes Freire de Moura, Betânia Lucena Domingues Hatzlhofer, Ana Claudia Mendonça Dos Anjos, Maria do Socorro de Mendonça Cavalcanti
The SOD2 polymorphism Val16Ala T→C influences the antioxidative response. This study investigated the association of the SOD2 polymorphism and superoxide dismutase (SOD) activity with the vaso-occlusive crisis (VOC) and acute splenic sequestration (ASS) in children with sickle cell anemia (SCA). One hundred ninety-five children with SCA aged 1-9 years old were analyzed. The TC and CC genotypes were associated with lower SOD activity compared with the TT genotype (p=0.0321; p=0.0253, respectively). Furthermore, TC and CC were more frequent in patients with VOC or ASS (p=0...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Atsuko Kayaba, Ari Itoh-Nakadai, Kunimichi Niibe, Matsuyuki Shirota, Ryo Funayama, Akiko Sugahara-Tobinai, Yi Li Wong, Masanori Inui, Keiko Nakayama, Toshiyuki Takai
Plasma cells (PCs) acquiring with long lives in bone marrow (BM) play a pivotal role in the humoral arm of immunological memory. The PCs reside in a special BM niche and produce antibodies against past-encountered pathogens or vaccine components for a long time. In BM, cysteine-X-cysteine (CXC) chemokine receptor type 4-expressing PCs and myeloid cells such as dendritic cells are attracted to and held by CXC chemokine ligand 12-secreting stromal cells, where survival of the PCs is supported by soluble factors such as IL-6 and a proliferation-inducing ligand or APRIL produced by neighboring myeloid cells...
February 24, 2018: International Immunology
Konstantinos Tigkiropoulos, Fragiska Sigala, Diamantis I Tsilimigras, Demetrios Moris, Konstantinos Filis, Nikolaos Melas, Dimitrios Karamanos, Christos Kontogiannis, Ioannis Lazaridis, Nikolaos Saratzis
BACKGROUND: Blunt thoracic aortic injury (BTAI) is the second most common cause of death in trauma patients. Nowadays, thoracic endovascular aortic repair (TEVAR) has become the treatment of choice due to lower rates of mortality, paraplegia and stroke. However, concerns have been raised whether graft implantation is related to the development of hypertension in the postoperative period. OBJECTIVES: To report short- and long-term outcomes of patients undergoing TEVAR for BTAIs at a tertiary hospital as well as investigate post-implant hypertension...
March 7, 2018: Annals of Vascular Surgery
Jesús Banda-Vázquez, Sooruban Shanmugaratnam, Rogelio Rodríguez-Sotres, Alfredo Torres-Larios, Birte Höcker, Alejandro Sosa-Peinado
Computational protein design is still a challenge for advancing structure-function relationships. While recent advances in this field are promising, more information for genuine predictions is needed. Here, we discuss different approaches applied to install novel glutamine (Gln) binding into the Lysine/Arginine/Ornithine binding protein (LAOBP) from Salmonella typhimurium. We studied the ligand binding behaviour of two mutants: a binding pocket grafting design based on a structural superposition of LAOBP to the Gln binding protein QBP from Escherichia coli and a design based on statistical coupled positions...
March 10, 2018: Protein Science: a Publication of the Protein Society
Yan-Yi Wang, Shan Ma, Qingyong Chen, Demin Jiao, Yong Yang
Current in vivo selections for hematopoietic stem cell (HSC)-based gene therapy are drug dependent and not without risk of cytotoxicity or tumorigenesis. We developed a new in vivo selection system with the non-phosphorylatable Bcl2 mutant Bcl2T69A/S70A/S87A (Bcl2AAA ), which makes in vivo selection drug independent and without risk of cytotoxicity or tumorigenesis. We demonstrated in HSC-transplanted mice that Bcl2AAA facilitated efficient in vivo selection in the absence of any exogenously applied drugs under both myeloablative and non-myeloablative conditioning...
March 9, 2018: Gene Therapy
Lori C Jordan, Dionna O Roberts Williams, Mark J Rodeghier, Brittany Covert, Maria R Ponisio, James F Casella, Robert C McKinstry, Michael J Noetzel, Fenella J Kirkham, Emily R Meier, Beng Fuh, Melissa McNaull, Sharada Sarnaik, Suvankar Majumdar, Timothy L McCavit, Michael R DeBaun
In a prospective cohort study, we tested the hypothesis that children with sickle cell anemia (SCA) with normal transcranial Doppler ultrasound (TCD) velocities and without silent cerebral infarcts (SCIs) would have a lower incidence rate of new neurological events (strokes, seizures or transient ischemic attacks) compared to children with normal TCD measurements and SCIs, not receiving regular blood transfusions. Non-randomized participants from the Silent Cerebral Infarct Transfusion (SIT) Trial who had screening magnetic resonance imaging (MRI) of the brain and normal TCD measurements were included...
March 9, 2018: American Journal of Hematology
I-Chun Chen, Chin-Sung Kuo, Chih-Cheng Wu, Hsiao-Ya Tsai, Chih-Pei Lin, Szu-Yuan Li, Ruey-Hsing Chou, Po-Hsun Huang, Jaw-Wen Chen, Shing-Jong Lin
Objective: Chronic hyperuricemia is associated with cardiovascular disease, but its impact on endothelial progenitor cells (EPC) and ischemia-induced neovascularization remains unclear. Herein we investigated whether chronic hyperuricemia could impede blood flow recovery in response to tissue ischemia by suppression of EPC. Methods: Human EPC were isolated and cultured in a high-level uric acid medium for functional testing. Cell proliferation, nitric oxide (NO) production and apoptosis assay were examined...
February 6, 2018: Oncotarget
Tomoya Sakabe, Keiko Sakai, Toru Maeda, Ataru Sunaga, Nao Furuta, Ronen Schweitzer, Takako Sasaki, Takao Sakai
Tendon is a dense connective tissue that transmits high mechanical forces from skeletal muscle to bone. The transcription factor scleraxis (Scx) is a highly specific marker of both precursor and mature tendon cells (tenocytes). Mice lacking scx exhibit a specific and virtually complete loss of tendons during development. However, the functional contribution of Scx to wound healing in adult tendon has not yet been fully characterized. Here, using ScxGFP-tracking and loss-of-function systems, we show in an adult mouse model of Achilles tendon injury that paratenon cells, representing a stem cell antigen-1 (Sca-1)-positive and Scx-negative progenitor subpopulation, display Scx induction, migrate to the wound site, and produce extracellular matrix (ECM) to bridge the defect, whereas resident tenocytes exhibit a delayed response...
March 5, 2018: Journal of Biological Chemistry
Marie-Laure Lalanne-Mistrih, Philippe Connes, Yann Lamarre, Nathalie Lemonne, Marie-Dominique Hardy-Dessources, Vanessa Tarer, Maryse Etienne-Julan, Dominique Mougenel, Benoît Tressières, Marc Romana
BACKGROUND: The pathophysiology of sickle cell disease (SCD) and the variability of its clinical expression remain not fully understood, whether within or between different SCD genotypes. Recent studies have reported associations between lipid levels and several SCD complications. If lipid levels have been previously described as low in sickle cell anemia (SCA), few data have been provided for sickle cell SC disease (SCC). We designed our epidemiological study to isolate lipid levels and profiles by genotype in Guadeloupian cohorts of SCA and SCC adult patients, at steady state...
March 5, 2018: Lipids in Health and Disease
Halima W M Al Balushi, David C Rees, John N Brewin, Anke Hannemann, John S Gibson
Red cells from patients with sickle cell anemia (SCA) are under greater oxidative challenge than those from normal individuals. We postulated that oxidants generated by xanthine oxidase (XO) and hypoxanthine (HO) contribute to the pathogenesis of SCA through altering solute permeability. Sickling, activities of the main red cell dehydration pathways (Psickle , Gardos channel, and KCl cotransporter [KCC]), and cell volume were measured at 100, 30, and 0 mmHg O2 , together with deoxygenation-induced nonelectrolyte hemolysis...
March 2018: Physiological Reports
Angela E Rankine-Mullings, Nadine Morrison-Levy, Deanne Soares, Karen Aldred, Lesley King, Susanna Ali, Jennifer M Knight-Madden, Margaret Wisdom-Phipps, Robert J Adams, Russell E Ware, Marvin Reid
This study investigated the association of nutritional and haematological variables with maximum time-averaged mean velocity (TAMV) measured by transcranial Doppler (TCD) velocity and the agreement of classification between two protocols. TCD categories included: normal (<170 cm/s), conditional (170-199 cm/s) and abnormal (≥200 cm/s) based on TAMV in distal internal carotid artery (dICA), middle cerebral artery (MCA), internal carotid bifurcation, anterior and posterior cerebral arteries. Of 358 children with sickle cell anaemia (SCA) examined, the mean age (±standard deviation) was 7·4 ± 2·7 years; 13·1% and 6·7% had conditional and abnormal velocities, respectively...
March 5, 2018: British Journal of Haematology
A Shiyovich, Y Plakht, H Gilutz
BACKGROUND AND AIM: Serum calcium levels (sCa) were reported to be associated with cardiovascular risk factors, incidence of coronary artery disease and acute myocardial infarction (AMI). The current study evaluated the association between sCa and in-hospital mortality among AMI patients. METHODS AND RESULTS: Patients admitted in a tertiary medical center for AMI throughout 2002-2012 were analyzed. For each patient, mean sCa, corrected to albumin, was calculated and categorized to seven equally-sized groups: <8...
February 1, 2018: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
X Zhou, C Wang, D Ding, Z Chen, Y Peng, H Peng, X Hou, P Wang, X Hou, W Ye, T Li, H Yang, R Qiu, K Xia, J Sequeiros, B Tang, H Jiang
Multiple system atrophy (MSA) is a complex and multifactorial neurodegenerative disease, and its pathogenesis remains uncertain. Patients with MSA or spinocerebellar ataxia (SCA) show overlapping clinical phenotypes. Previous studies have reported that intermediate or long CAG expansions in SCA genes have been associated with other neurodegenerative disease. In this study, we screened for the number of CAG repeats in ATXN1, 2 and 3 in 200 patients with MSA and 314 healthy controls to evaluate possible associations between (CAG)n in these three polyQ-related genes and MSA...
March 1, 2018: Scientific Reports
Richard Behringer, Marina Gertsenstein, Kristina Vintersten Nagy, Andras Nagy
Fluorescent protein (FP)-expressing transgenic mice are powerful genetic resources for marking both live and fixed cells and tissues. Expression in live embryos requires only dissection and visualization using an appropriate microscope. Fixation can compromise FP activity. A simple tissue-clearing agent called Sca l e preserves FP activity while rendering the embryo or organ optically transparent.
March 1, 2018: Cold Spring Harbor Protocols
Kai Wang, Xianmin Zhang, Jun Ota, Yanjiang Huang
This paper proposes a nonlinear correlation-based wavelet scale selection technology to select the effective wavelet scales for the estimation of handgrip force from surface electromyograms (SEMG). The SEMG signal corresponding to gripping force was collected from extensor and flexor forearm muscles during the force-varying analysis task. We performed a computational sensitivity analysis on the initial nonlinear SEMG-handgrip force model. To explore the nonlinear correlation between ten wavelet scales and handgrip force, a large-scale iteration based on the Monte Carlo simulation was conducted...
February 24, 2018: Sensors
Koji Abe
The present review focuses an early history of Japanese amyotrophic lateral sclerosis (ALS)-related diseases and the current development. In relation to foreign previous reports, five topics are introduced and discussed on ALS with dementia, ALS/Parkinsonism dementia complex (ALS/PDC), familial ALS (FALS), spinal bulbar muscular atrophy (SBMA), and multisystem involvement especially in cerebellar system of ALS including ALS/SCA (spinocerebellar ataxia) crossroad mutation Asidan. This review found the great contribution of Japanese reports on the above five topics, and confirmed the great development of ALS-related diseases over the past 120 years...
February 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
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