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Emergent diseases

María Del Pino, Amado Andrés, Ana Ávila Bernabéu, Joaquín de Juan-Rivera, Elvira Fernández, Juan de Dios García Díaz, Domingo Hernández, José Luño, Isabel Martínez Fernández, José Paniagua, Manuel Posada de la Paz, José Carlos Rodríguez-Pérez, Rafael Santamaría, Roser Torra, Joan Torras Ambros, Pedro Vidau, Josep-Vicent Torregrosa
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, endothelial cells, epithelial cells, and tubular cells contribute to the renal symptoms of FD, which manifest as proteinuria and reduced glomerular filtration rate leading to renal insufficiency...
March 16, 2018: Kidney & Blood Pressure Research
Chih-Yuan Wang, Yi-Chan Chen, Ti-Hsuan Chien, Hao-Yu Chang, Yu-Hsien Chen, Chih-Ying Chien, Ting-Shuo Huang
Here we conducted a retrospective analysis of hospital-based trauma registry database for evaluating the impacts of comorbidities on the prognosis for traumatized patients using Index of Coexistent Comorbidity Disease (ICED) scores. We analyzed the data of patients with blunt trauma who visited emergency department between January 1, 2011, and December 31, 2015 in Chang-Gung Memorial Hospital, Keelung branch, a single level I trauma center in the Northern Taiwan. All consecutive patients with blunt trauma who admitted to the intensive care unit or ordinary ward after initial managements in the emergency department were included...
2018: PloS One
C Melissa Miner, Jennifer L Burnaford, Richard F Ambrose, Liam Antrim, Heath Bohlmann, Carol A Blanchette, John M Engle, Steven C Fradkin, Rani Gaddam, Christopher D G Harley, Benjamin G Miner, Steven N Murray, Jayson R Smith, Stephen G Whitaker, Peter T Raimondi
Disease outbreaks can have substantial impacts on wild populations, but the often patchy or anecdotal evidence of these impacts impedes our ability to understand outbreak dynamics. Recently however, a severe disease outbreak occurred in a group of very well-studied organisms-sea stars along the west coast of North America. We analyzed nearly two decades of data from a coordinated monitoring effort at 88 sites ranging from southern British Columbia to San Diego, California along with 2 sites near Sitka, Alaska to better understand the effects of sea star wasting disease (SSWD) on the keystone intertidal predator, Pisaster ochraceus...
2018: PloS One
Jelena Krstic, Markus Galhuber, Tim J Schulz, Michael Schupp, Andreas Prokesch
Lifestyle-related disorders, such as the metabolic syndrome, have become a primary risk factor for the development of liver pathologies that can progress from hepatic steatosis, hepatic insulin resistance, steatohepatitis, fibrosis and cirrhosis, to the most severe condition of hepatocellular carcinoma (HCC). While the prevalence of liver pathologies is steadily increasing in modern societies, there are currently no approved drugs other than chemotherapeutic intervention in late stage HCC. Hence, there is a pressing need to identify and investigate causative molecular pathways that can yield new therapeutic avenues...
March 20, 2018: International Journal of Molecular Sciences
Amber Hilliard, Dara Leong, Amy O'Callaghan, Eamonn P Culligan, Ciara A Morgan, Niall DeLappe, Colin Hill, Kieran Jordan, Martin Cormican, Cormac G M Gahan
Listeria monocytogenes is a major human foodborne pathogen that is prevalent in the natural environment and has a high case fatality rate. Whole genome sequencing (WGS) analysis has emerged as a valuable methodology for the classification of L. monocytogenes isolates and the identification of virulence islands that may influence infectivity. In this study, WGS was used to provide an insight into 25 L. monocytogenes isolates from cases of clinical infection in Ireland between 2013 and 2015. Clinical strains were either lineage I (14 isolates) or lineage II (11 isolates), with 12 clonal complexes (CC) represented, of which CC1 (6) and CC101 (4) were the most common...
March 20, 2018: Genes
Mohd Faizal Ahmad, Muhammad Azrai Abu, Kah Teik Chew, Kun Leng Sheng, Mohd Asyraf Zakaria
A positive urine pregnancy test (UPT) with adnexal mass in ectopic pregnancy is not the ultimate diagnosis. The incidence of ectopic pregnancy is about 27 per 1000 pregnancies [1]. On average, about 6-16% will present to an emergency department with first-trimester bleeding and abdominal pain [2]. On presenting with these symptoms with the simultaneous presence of an adnexal mass and an empty uterus, a UPT is of paramount importance to determine whether the symptoms are pregnancy related or not. When the UPT is positive, an ectopic pregnancy is not the only diagnosis as the rare entity of non-gestational ovarian choriocarcinoma (NGOC) should be considered...
March 20, 2018: Hormone Molecular Biology and Clinical Investigation
Jose Luis Lopez-Campos, Stefano Centanni
The study of airway diseases continues to present several challenges for modern medicine. The different disease presentations with variables and overlapping features may result in a real challenge for the clinician. In this context, the concept of precision medicine has started to emerge in order to give answers to some of these challenges from a diagnostic and therapeutic point of view. The main reasons to target for precision medicine in chronic obstructive pulmonary disease (COPD) include that there is variability in the clinical presentation, there is no correlation between the different clinical variables at the patient level, there are a number of relevant clinical variables associated with outcomes, we do have specific therapies for specific patient types, and that there is variability in the clinical response to different therapies...
March 20, 2018: COPD
Maria Isabel de Oliveira, Gislene Mitsue Namiyama, Gabriela Bastos Cabral, João Leandro Ferreira, Noemi Taniwaki, Ana Maria Sardinha Afonso, Isabella Rillo Lima, Luís Fernando Macedo de Brigido
A great variety of viruses which cause exanthema share other clinical manifestations, making the etiologic identification a very difficult task, relying exclusively on the clinical examination. Rubella virus (RV) infection during the early stages of pregnancy can lead to serious birth defects, known as congenital rubella syndrome (CRS). In the present report, we described the presence of Zika virus (ZIKV) particles in urine samples and also ZIKV isolation in SIRC cells from the urine of a patient in acute phase of suspected rubella disease...
2018: Revista do Instituto de Medicina Tropical de São Paulo
Flora Pirozzi, Kai Ren, Alessandra Murabito, Alessandra Ghigo
Chronic obstructive pulmonary disease (COPD) is a progressive respiratory disorder characterized by irreversible chronic inflammation and airflow obstruction. It affects more than 64 million patients worldwide and it is predicted to become the third cause of death in the industrialized world by 2030. Current available therapies are not able to block disease progression and to reduce mortality, underlying the need of a better understanding of COPD pathophysiological mechanisms to identify new molecular therapeutic targets...
March 20, 2018: Current Medicinal Chemistry
Dimos Karangelis, Apostolos Roubelakis, Dimitris Mikroulis, Matthew Panagiotou
Aortic arch pathologies such as acute aortic dissection and aneurysmal disease represent surgical challenges. Various emerging techniques and surgical prostheses have expanded the therapeutic armamentarium over the last years with one principal objective; to simplify the operation and reduce the surgical time. Besides the classic elephant trunk which has been regarded as an evolutionary leap in the treatment of extensive thoracic disease, other novel surgical approaches such as the frozen elephant trunk, the thoracic endovascular aortic repair (TEVAR) and the hybrid open branched stent grafts have been introduced...
March 20, 2018: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
Mimi M Li, Mohamad S Hamady, Colin D Bicknell, Celia V Riga
Flexible robotic catheters are an emerging technology which provide an elegant solution to the challenges of conventional endovascular intervention. Originally developed for interventional cardiology and electrophysiology procedures, remotely steerable robotic catheters such as the Magellan system enable greater precision and enhanced stability during target vessel navigation. These technical advantages facilitate improved treatment of disease in the arterial tree, as well as allowing execution of otherwise unfeasible procedures...
March 19, 2018: Journal of Cardiovascular Surgery
Jenna L Gollihue, Samir P Patel, Alexander G Rabchevsky
Mitochondria are essential cellular organelles critical for generating adenosine triphosphate for cellular homeostasis, as well as various mechanisms that can lead to both necrosis and apoptosis. The field of "mitochondrial medicine" is emerging in which injury/disease states are targeted therapeutically at the level of the mitochondrion, including specific antioxidants, bioenergetic substrate additions, and membrane uncoupling agents. Consequently, novel mitochondrial transplantation strategies represent a potentially multifactorial therapy leading to increased adenosine triphosphate production, decreased oxidative stress, mitochondrial DNA replacement, improved bioenergetics and tissue sparing...
February 2018: Neural Regeneration Research
Jimin Sun, Liang Lu, Jun Yang, Keke Liu, Haixia Wu, Qiyong Liu
Severe fever with thrombocytopenia syndrome (SFTS) is emerging in China. To explore the lagged effects and nonlinear association between temperature and SFTS, we collected data on ambient temperature and SFTS cases and analyzed the data using a distributed lag nonlinear model. A total of 1,933 SFTS cases were reported in the study area from 2011 to 2015. Our study revealed a nonlinear relationship between weekly temperature and SFTS. The exposure-response curve was an approximately reversed U-shaped peak at 23°C...
March 19, 2018: American Journal of Tropical Medicine and Hygiene
Mostafa Heydari, Maliheh Metanat, Mohammad-Ali Rouzbeh-Far, Seyed Mehdi Tabatabaei, Mohammad Rakhshani, Nahid Sepehri-Rad, Maryam Keshtkar-Jahromi
Dengue fever (DF) is a mosquito-borne acute viral disease presenting with hemorrhagic manifestations in severe cases. Southeast Iran is in close proximity to Pakistan, an endemic country for DF. This cross-sectional study was conducted in the Sistan and Baluchestan province in the southeast of Iran to investigate possibility of DF (immunoglobulin M [IgM], immunoglobulin G [IgG], and nonstructural protein 1 [NS1] antigen tests) in 60 clinically suspected patients (April 2013 to August 2015). NS1 protein was detected in 5% ( N = 3), at least one of the antibodies (IgM and/ or IgG) was detected in 11% ( N = 7) of the samples...
March 19, 2018: American Journal of Tropical Medicine and Hygiene
Yuequan Zhu, Raja Anand, Xiaokun Geng, Yuchuan Ding
Vascular diseases refer to medical conditions that narrow blood vessels. Narrowed cardiac or cerebral arteries can lead to myocardial infarction or ischemic stroke. Risk factors including atherosclerosis, hypertension, and diabetes may induce either cardiovascular or cerebral complications. Based on current research, garlic favorably affects atherosclerosis, hypertension and diabetes, and helps decrease the risk of myocardial infarction and ischemic stroke. Garlic has been utilized for hundreds of years as a natural health remedy...
March 20, 2018: Neurological Research
Brandon K Martinez, C Michael White
OBJECTIVE: To review the role of inflammatory suppression in patients with atherosclerotic cardiovascular disease (ASCVD) with a focus on the interleukin-1β blocker canakinumab. DATA SOURCES: An Ovid MEDLINE literature search (1946 to February 2018) was performed using search terms inflammation, ASCVD, atherosclerosis, C-reactive protein, canakinumab. Additional references were identified from a review of literature citations. STUDY SELECTION AND DATA EXTRACTION: English-language studies assessing the impact of pharmacological agents, including canakinumab, on inflammation as measured by high-sensitivity C-reactive protein (hsCRP) and the association with reducing ASCVD events were evaluated...
March 1, 2018: Annals of Pharmacotherapy
J M Carrascosa, E Del-Alcazar
Biologic drugs have revolutionized the treatment of moderate to severe psoriasis in recent years because of their high efficacy and low risk of toxicity. However, even within the group of biologic therapies, there are differences related to the different mechanisms of action. Areas covered: We review the main adverse events associated with the biologic agents currently available for the treatment of psoriasis and the new inhibitors targeting the p19 subunit of interleukin (IL) 23 and the IL-17A receptor. This review covers injection site reactions, infections, cardiovascular events, demyelinating disorders, tumours, class effects secondary adverse events, immunogenicity, safety in pregnancy and vaccines efficacy...
March 20, 2018: Expert Review of Clinical Immunology
Shi Hua Tan, Lei Ye
Cardiomyocytes derived from human pluripotent stem cells (hPSCs) are emerging as an invaluable alternative to primarily sourced cardiomyocytes. The potentially unlimited number of hPSC-derived cardiomyocytes (hPSC-CMs) that may be obtained in vitro facilitates high-throughput applications like cell transplantation for myocardial repair, cardiotoxicity testing during drug development, and patient-specific disease modeling. Despite promising progress in these areas, a major disadvantage that limits the use of hPSC-CMs is their immaturity...
March 19, 2018: Journal of Cardiovascular Translational Research
Alberto Avolio, Mi Ok Kim, Audrey Adji, Sumudu Gangoda, Bhargava Avadhanam, Isabella Tan, Mark Butlin
PURPOSE OF REVIEW: Concepts of pulsatile arterial haemodynamics, including relationships between oscillatory blood pressure and flow in systemic arteries, arterial stiffness and wave propagation phenomena have provided basic understanding of underlying haemodynamic mechanisms associated with elevated arterial blood pressure as a major factor of cardiovascular risk, particularly the deleterious effects of isolated systolic hypertension in the elderly. This topical review assesses the effects of pulsatility of blood pressure and flow in the systemic arteries on the brain...
March 19, 2018: Current Hypertension Reports
Kristina H Jackson, William S Harris
PURPOSE OF REVIEW: Fatty acid (FA) profiles in different blood compartments are reflections of both diet and metabolism, and some FA levels are related to disease risk. RECENT FINDINGS: Perhaps the most studied FA-disease relationship is between long-chain omega-3 polyunsaturated fatty acids [eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA)] and cardiovascular disease (CVD). Despite null results from recent large omega-3 FA supplementation trials, new research continues to support past studies showing that blood levels of EPA + DHA are inversely related to risk for total mortality and fatal CVD events...
March 20, 2018: Current Atherosclerosis Reports
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