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still‘s disease

Salvador Ventura, Susanna Navarro
Protein misfolding and aggregation into amyloid conformations have been described to underlie the onset of several human neurodegenerative diseases. Although a large number of biophysical approaches are available to study amyloids in vitro, we still need robust methods to address their self-assembly in living cells. In this context, simple cellular models, like bacteria and yeast, expressing recombinant amyloidogenic proteins are emerging as convenient systems for studying the formation of protein inclusions, their toxicity, propagation, and interactions...
2019: Methods in Molecular Biology
Kyle J Foreman, Neal Marquez, Andrew Dolgert, Kai Fukutaki, Nancy Fullman, Madeline McGaughey, Martin A Pletcher, Amanda E Smith, Kendrick Tang, Chun-Wei Yuan, Jonathan C Brown, Joseph Friedman, Jiawei He, Kyle R Heuton, Mollie Holmberg, Disha J Patel, Patrick Reidy, Austin Carter, Kelly Cercy, Abigail Chapin, Dirk Douwes-Schultz, Tahvi Frank, Falko Goettsch, Patrick Y Liu, Vishnu Nandakumar, Marissa B Reitsma, Vince Reuter, Nafis Sadat, Reed J D Sorensen, Vinay Srinivasan, Rachel L Updike, Hunter York, Alan D Lopez, Rafael Lozano, Stephen S Lim, Ali H Mokdad, Stein Emil Vollset, Christopher J L Murray
BACKGROUND: Understanding potential trajectories in health and drivers of health is crucial to guiding long-term investments and policy implementation. Past work on forecasting has provided an incomplete landscape of future health scenarios, highlighting a need for a more robust modelling platform from which policy options and potential health trajectories can be assessed. This study provides a novel approach to modelling life expectancy, all-cause mortality and cause of death forecasts -and alternative future scenarios-for 250 causes of death from 2016 to 2040 in 195 countries and territories...
October 16, 2018: Lancet
M Martano, S Iussich, E Morello, P Buracco
Canine oral fibrosarcoma (oFSA) is a malignant, infiltrating, mesenchymal tumour affecting the oral cavity primarily of medium to large middle aged dogs. The diagnosis often is made late in the course of the disease, due to the frequent caudal location of the tumour, and histopathology is not always sufficient to discriminate undifferentiated oFSA from other poorly differentiated malignant mesenchymal tumours occurring at the same site, especially in small biopsy samples. The literature exclusively relating to oFSA is limited and outcome data following treatment are difficult to compare...
November 2018: Veterinary Journal
Sandra Helena Machado, Ricardo M Xavier, Priscila S Lora, Luciana M Kurtz Gonçalves, Luciane R Trindade, Paulo José C Marostica
OBJECTIVE: To evaluate height, sexual maturation, and the difference between final and expected height in girls with juvenile idiopathic arthritis and no glucocorticoid treatment for at least six months, as compared to a group of healthy girls. METHODS: This cross-sectional study involved 44 girls with juvenile idiopathic arthritis, diagnosed according to the International League of Associations for Rheumatology criteria, and 59 healthy controls aged between 8 and 18 (incomplete) years with no comorbid chronic diseases...
October 16, 2018: Jornal de Pediatria
Alberto J Martín-Rodríguez, Adrián Suárez-Mesa, Fernando Artiles-Campelo, Ute Römling, Mariano Hernández
The genus Shewanella is rapidly expanding, with new species being discovered frequently. Four species have been identified as pathogenic to humans, with Shewanella algae being most relevant. Evaluation of the clinical significance of species still suffers from the imprecision of species identification. In addition, the origin of S. algae strains causing disease is unclear. To shed light upon these questions we re-identified reportedly S. algae isolates on the species level based on partial sequences of the 16S rRNA and gyrB genes in combination with multilocus sequence analysis of six housekeeping loci...
October 18, 2018: FEMS Microbiology Ecology
P Muggeo, E Calore, N Decembrino, S Frenos, F De Leonardis, A Colombini, F Petruzziello, K Perruccio, M Berger, R Burnelli, G A Zanazzo, N Santoro, S Cesaro
BACKGROUND: Invasive mucormycosis is a rare but frequently fatal fungal disease. The acute and rapidly progressive evolution causes unfavourable outcome in 22-59% of patients and its treatment represents a clinical challenge, especially in immunocompromised patients. Current data in pediatric oncological patients are limited. OBJECTIVES: The infection Working Group of the Italian Association of Pediatric Hematology and Oncology (AIEOP) analyzed the episodes of invasive mucormycosis occurred between 2009 and 2016...
October 18, 2018: Mycoses
Andrea Zanichelli, Markus Magerl, Hilary J Longhurst, Werner Aberer, Teresa Caballero, Laurence Bouillet, Anette Bygum, Anete S Grumach, Jaco Botha, Irmgard Andresen, Marcus Maurer
The objective of this analysis was to evaluate the change over time in age at first symptoms, age at diagnosis, and delay in diagnosis using data from the Icatibant Outcome Survey (IOS). Patients with a diagnosis of C1-INH-HAE who were born before the year 1990 and who were diagnosed before they reached 25 years of age were included in the analysis. Both age at diagnosis and delay in diagnosis of C1-INH-HAE appear to decline with later decade of birth, despite wide variation across the countries assessed, suggesting that improved disease awareness causes increased rates of earlier diagnosis over time...
2018: Clinical and Translational Allergy
V Bourinet, K Thiam, J Guinde, S Laroumagne, H Dutau, P Astoul
INTRODUCTION: Benign laryngotracheal stenosis is a rare pathology with multiple etiologies, the management of which is complex. This is because of the configuration and proximity of the larynx and the difficulty with surgical approaches, which are potentially mutilating, especially for the management of a benign disease. When surgery is challenging, iterative dilatations of the stricture or the fashioning of a definitive tracheotomy are therapeutic alternatives. Advances in rigid bronchoscopy and the evolution of prosthetic silicone material allow a new approach in the management of benign laryngotracheal stenosis, by placing flexible silicone prostheses which cover all the stenosis from the arytenoids to the trachea...
October 15, 2018: Revue des Maladies Respiratoires
Jared Ehrhart, Paul R Sanberg, Svitlana Garbuzova-Davis
Limited efficacy of current therapeutic approaches for neurodegenerative disease has led to increased interest in alternative therapies. Cord blood plasma (CBP) derived from human umbilical cord blood (hUCB) may be a potential therapeutic. Benefits of CBP injection into rodent models of aging or ischaemic stroke have been demonstrated, though how benefits are elicited is still unclear. The present study evaluated various factors within the same samples of CBP and human adult blood plasma/sera (ABP/S). Also, autologous CBP effects vs...
October 18, 2018: Journal of Cellular and Molecular Medicine
Maria C A Luque, Mariana K Galuppo, Janaina Capelli-Peixoto, Beatriz S Stolf
CD100 or Sema4D is a protein from the semaphorin family with important roles in the vascular, nervous and immune systems. It may be found as a membrane bound dimer or as a soluble molecule originated by proteolytic cleavage. Produced by the majority of hematopoietic cells including B and T lymphocytes, natural killer and myeloid cells, as well as endothelial cells, CD100 exerts its actions by binding to different receptors depending on the cell type and on the organism. Cell-to-cell adhesion, angiogenesis, phagocytosis, T cell priming, and antibody production are examples of the many functions of this molecule...
2018: Frontiers in Cardiovascular Medicine
Nelson Wang, Jan Haug Anonsen, Raimonda Viburiene, Joseph S Lam, Åshild Vik, Michael Koomey
The genus Neisseria includes three major species of importance to human health and disease ( Neisseria gonorrhoeae , N. meningitidis , and N. lactamica ) that express broad spectrum O -linked protein glycosylation systems. The potential for related pgl systems in other species in the genus, however, remains to be determined. Using a strain of N. elongata subsp. glycolytica , a unique tetrasaccharide glycoform consisting of di- N -acetylbacillosamine and glucose as the first two sugars followed by a rare sugar whose mass spectrometric fragmentation profile was most consistent with di- N -acetyl hexuronic acid and a N -acetylhexosamine at the non-reducing end has been identified...
October 15, 2018: Journal of Bacteriology
L Seyler, S Henrard, J C Goffard
Despite recent advances in combined anti- retroviral therapy that have profoundly changed the prognosis of HIV infection, HIV-associated haematological complications remains frequent whatever the stage of the disease. Some types of lymphoma observed a dramatic reduction in their incidences but others such as diffuse B-cell lymphoma and Hodkin lymphoma remain as frequent as before the CART era. Treatments for lymphoma are nowadays not different for people living with HIV than for others. Other non- neoplastic diseases such as immune thrombo- penic purpura, thrombotic microangiopathies and hemophagocytic lymphohistiocytosis are still associated with HIV infection and will be discussed...
2018: Revue Médicale de Bruxelles
Sri Y Irda Sari, Deni K Sunjaya, Hana Shimizu-Furusawa, Chiho Watanabe, Ardini S Raksanagara
Fecal contamination in water sources is still found globally, especially in urban slum areas of mid-low income countries. Fecal contamination as an indicator of low levels of hygiene and sanitation practices as well as poor management of drinking water supply might increase the risk of waterborne diseases in developing countries like Indonesia. This study aimed to assess quality of all water sources in one of the urban slum settlements along a contaminated river basin in Indonesia. A cross-sectional survey was conducted during the period of August to October 2015...
2018: Journal of Environmental and Public Health
S W G J W Chinthaka, R L Satarasinghe, S Senanayake, W A P S R Weerarathne, A A M Anfaz, M P Deraniyagala
BACKGROUND: Lymphadenopathy is not an uncommon presentation of adult onset Still's disease: it is present in up to two thirds of patients with adult onset Still's disease. The characteristic appearance of lymphadenopathy is described as intense, paracortical immunoblastic hyperplasia. Changes in light microscopy may resemble lymphoma, but immunohistochemistry reveals a benign polyclonal B cell hyperplasia. CASE PRESENTATION: We describe a 67-year-old Sri Lankan woman who manifested relapsing prolonged fever, raised inflammatory markers, arthralgia, myalgia, transient skin rash, and cervical lymphadenopathy histologically characterized by noncaseating granulomatous adenitis with central suppuration...
October 15, 2018: Journal of Medical Case Reports
G Singh, V Singh, J S Schneider
Sex differences in the risk for and expression of various brain disorders have been known for some time. Yet, the molecular underpinnings of these sex differences as well as how sex modifies normal brain development are still poorly understood. It has recently become known that epigenetic mechanisms play an essential role in establishing and maintaining sex differences in neurodevelopment and disease susceptibility. Epigenetic mechanisms such as post-translational modifications of histones (histone PTMs) integrate various hormonal and external environmental influences to affect genomic output, and this appears to occur in a sex-dependent manner...
October 10, 2018: Biochimica et biophysica acta. Molecular basis of disease
Teresa Joy, Muddanna S Rao, Sampath Madhyastha
Alzheimer's disease (AD) is characterized by the accumulation of neurofibrillary tangles (NFT), deposition of beta amyloid plaques, and consequent neuronal loss in the brain tissue. Oxidative stress to the neurons is often attributed to AD, but its link to NFT and β-amyloid protein (BAP) still remains unclear. In an animal model of AD, we boosted the oxidative defense by N -Acetyl cysteine (NAC), a precursor of glutathione, a powerful antioxidant and free radical scavenger, to understand the link between oxidative stress and NFT...
October 11, 2018: Brain Sciences
V-E Bret, B Pougault, A Guy, S Castet, Y Huguenin, X Pillois, C James, M Fiore
Light transmission aggregometry (LTA) is still considered as the "gold standard" for platelet function assessment but, as acompletely manual technology, it is labour intensive. This challenge can be overcome by performing platelet aggregometry in anautomated method on a routine coagulation analyzer. We aimed to compare and correlate results obtained from a traditional manual LTA solution realized in our Reference Center with an optimized automated system using CE-marked agonist reagents. Platelet rich plasma from patients with suspected platelet disorders, von Willebrand disease or antiplatelet therapy have been assessed using a wide range of agonist concentrations...
October 12, 2018: Platelets
Hege H Johannessen, Signe N Stafne, Ragnhild S Falk, Arvid Stordahl, Arne Wibe, Siv Mørkved
AIMS: The main aim of the present study, was to explore prevalence and predictors of anal incontinence (AI) experienced 6 years after first delivery. METHODS: In this longitudinal prospective cohort study, participants in a previous study answered questions about AI 6 years after first delivery using postal or digital questionnaires. Prevalence of AI was calculated, and multivariable logistic regression analyses were applied. RESULTS: A total of 731 (48%) of the original participants who gave birth to their first child between May 2009 and December 2010 responded 6 years after first delivery...
October 12, 2018: Neurourology and Urodynamics
Marine Houdou, Elodie Lebredonchel, Anne Garat, Sandrine Duvet, Dominique Legrand, Valérie Decool, André Klein, Mohamed Ouzzine, Bruno Gasnier, Sven Potelle, François Foulquier
Congenital disorders of glycosylation are severe inherited diseases in which aberrant protein glycosylation is a hallmark. Transmembrane protein 165 (TMEM165) is a novel Golgi transmembrane protein involved in type II congenital disorders of glycosylation. Although its biologic function is still a controversial issue, we have demonstrated that the Golgi glycosylation defect due to TMEM165 deficiency resulted from a Golgi Mn2+ homeostasis defect. The goal of this study was to delineate the cellular pathway by which extracellular Mn2+ rescues N-glycosylation in TMEM165 knockout (KO) cells...
October 11, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
R Galot, C Le Tourneau, J Guigay, L Licitra, I Tinhofer, A Kong, C Caballero, C Fortpied, J Bogaerts, A-S Govaerts, D Staelens, T Raveloarivahy, L Rodegher, J-F Laes, E Saada-Bouzid, J-P Machiels
The molecular landscape of squamous cell carcinoma of the head and the neck (SCCHN) has been characterized and actionable or targetable genomic alterations have been identified. However, targeted therapies have very limited activity in unselected SCCHN and the current treatment strategy is still based on tumor location and disease stage and not on tumor biology.Trying to select upfront the patients who will benefit from a specific treatment might be a way to improve patients' outcome. With the objective of optimizing the activity of targeted therapies and immunotherapy, we have designed an umbrella biomarker-driven study dedicated to recurrent and/or metastatic SCCHN patients (EORTC-1559-HNCG, NCT03088059)...
October 11, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
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