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Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
Dian He, Yuan Li, Yunli Yu, Gang Cai, Fu Ouyang, Yuchan Lin, Hongjuan Lu, Lan Chu
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to result from somatic mosaicism due to a postzygotic mutation in the NF1 gene, thus a test for NF1 gene abnormalities in peripheral blood is usually negative. Here we report a 31-year-old male presenting with epileptic seizures, who had a history of neurofibromas confirmed by biopsy, but lacked a family history of neurofibromatosis...
March 1, 2018: Clinical Neurology and Neurosurgery
Toby Wise, Matthew J Taylor, Andres Herane-Vives, Antonella Marino Gammazza, Francesco Cappello, David J Lythgoe, Steve Cr Williams, Allan H Young, Anthony J Cleare, Danilo Arnone
BACKGROUND: There is uncertainty as to whether alterations in glutamatergic function in affective disorders differ between unipolar and bipolar disorders and between depressive and euthymic states. Additionally, there are currently no available blood-based markers of central glutamatergic function to support clinical diagnosis and aid brain based investigations. METHODS: In this study, we measured levels of glutamate in the dorsal anterior cingulate cortex in-vivo using 1H-Magnetic Resonance Spectroscopy in medication free unipolar and bipolar patients (n = 29, 20 unipolar and 9 bipolar) experiencing a major depressive episode, in comparison with a group of matched healthy controls (n = 20)...
February 27, 2018: Journal of Affective Disorders
Glenn A Jacobson, Sharanne Raidal, Kate Robson, Christian K Narkowicz, David S Nichols, E Haydn Walters
BACKGROUND: Salmeterol (a long acting beta2-agonist) is a chiral molecule. (RR)-salmeterol is responsible for pharmacological effect, but basic knowledge of enantioselective pulmonary pharmacodynamics and pharmacokinetics of salmeterol remains unknown. There are safety concerns with (S)-enantiomers of beta2-agonists, with suggestions that these enantiomers may increase bronchial hyperresponsivneness in asthma patients. METHODOLOGY: Horses (n = 12) received racemic (rac-) salmeterol 250 μg via inhalation...
February 23, 2018: Journal of Pharmaceutical and Biomedical Analysis
Tanya Moutray, Jennifer R Evans, Noemi Lois, David J Armstrong, Tunde Peto, Augusto Azuara-Blanco
BACKGROUND: Diabetic retinopathy (DR) is a chronic progressive disease of the retinal microvasculature associated with prolonged hyperglycaemia. Proliferative DR (PDR) is a sight-threatening complication of DR and is characterised by the development of abnormal new vessels in the retina, optic nerve head or anterior segment of the eye. Argon laser photocoagulation has been the gold standard for the treatment of PDR for many years, using regimens evaluated by the Early Treatment of Diabetic Retinopathy Study (ETDRS)...
March 15, 2018: Cochrane Database of Systematic Reviews
Djalma A Alves da Silva, Marcos V da Silva, Cleyson C Oliveira Barros, Patrícia B Dias Alexandre, Rodolfo P Timóteo, Jonatas S Catarino, Helioswilton Sales-Campos, Juliana R Machado, Denise B R Rodrigues, Carlo J Oliveira, Virmondes Rodrigues
Tuberculosis (TB) is a granulomatous disease that has affected humanity for thousands of years. The production of cytokines, such as IFN-γ and TNF-α, is fundamental in the formation and maintenance of granulomas and in the control of the disease. Recently, the introduction of TNF-α-blocking monoclonal antibodies, such as Infliximab, has brought improvements in the treatment of patients with chronic inflammatory diseases, but this treatment also increases the risk of reactivation of latent tuberculosis. Our objective was to analyze, in an in vitro model, the influence of Infliximab on the granulomatous reactions and on the production of antigen-specific cytokines (TNF-α, IFN-γ, IL-12p40, IL-10 and IL-17) from beads sensitized with soluble Bacillus Calmette-Guérin (BCG) antigens cultured in the presence of peripheral blood mononuclear cells (PBMC) from TB patients...
2018: PloS One
Suguru Fukushima, Makoto Endo, Yoshihiro Matsumoto, Jun-Ichi Fukushi, Tomoya Matsunobu, Ken-Ichi Kawaguchi, Nokitaka Setsu, Keiichiro IIda, Nobuhiko Yokoyama, Makoto Nakagawa, Kenichiro Yahiro, Yoshinao Oda, Yukihide Iwamoto, Yasuharu Nakashima
[This corrects the article DOI: 10.1371/journal.pone.0178064.].
2018: PloS One
Jens Neumann, Sophie Henneberg, Susanne von Kenne, Niklas Nolte, Andreas J Müller, Burkhart Schraven, Michael W Görtler, Klaus G Reymann, Matthias Gunzer, Monika Riek-Burchardt
Inflammation plays an important role in the pathogenesis of ischemic stroke including an acute and prolonged inflammatory process. The role of neutrophil granulocytes as first driver of the immune reaction from the blood site is under debate due to controversial findings. In bone marrow chimeric mice we were able to study the dynamics of tdTomato-expressing neutrophils and GFP-expressing microglia after photothrombosis using intravital two-photon microscopy. We demonstrate the infiltration of neutrophils into the brain parenchyma and confirm a long-lasting contact between neutrophils and microglia as well as an uptake of neutrophils by microglia clearing the brain from peripheral immune cells...
2018: PloS One
Paula Marrano, Mary Shago, Gino R Somers, Paul S Thorner
Osteogenic sarcoma (OS) is the most common malignant bone tumor in children and adolescents. Despite advances in molecular genetic characterization of pediatric and adult tumors, the diagnosis of OS still depends almost entirely on light microscopy. The lack of consistent genetic changes in OS has greatly hindered the development of any diagnostic molecular test. Recently, whole-genome sequencing has shown that ~50% of cases of OS have a translocation involving the TP53 gene with breakpoints confined to the first intron...
March 14, 2018: American Journal of Surgical Pathology
Ornella Sortino, Elizabeth Richards, Joana Dias, Edwin Leeansyah, Johan K Sandberg, Irini Sereti
: Chronic HIV-1 infection is associated with lower frequencies and functional impairment of mucosa-associated invariant T (MAIT) cells. We evaluated IL-7 treatment to restore MAIT cells in peripheral blood of chronically HIV-1-infected individuals on antiretroviral therapy. IL-7 led to increased relative and absolute levels of MAIT cells, and this expansion occurred primarily in the CD8 subset. These results suggest that IL-7 may represent a therapeutic intervention for the restoration of MAIT cells in chronic HIV-1 infection...
March 27, 2018: AIDS
Ana E López-Pérez, Kulmira Nurgali, Raquel Abalo
Beyond their well-known role in embryonic development of the central and peripheral nervous system, neurotrophins, particularly nerve growth factor and brain-derived neurotrophic factor, exert an essential role in pain production and sensitization. This has mainly been studied within the framework of somatic pain, and even antibodies (tanezumab and fasinumab) have recently been developed for their use in chronic somatic painful conditions, such as osteoarthritis or low back pain. However, data suggest that neurotrophins also exert an important role in the occurrence of visceral pain and visceral sensitization...
April 2018: Behavioural Pharmacology
Maurizio Battaglia Parodi, Alessandro Arrigo, Robert E MacLaren, Emanuela Aragona, Lisa Toto, Rodolfo Mastropasqua, Maria Pia Manitto, Francesco Bandello
PURPOSE: Choroideremia is a rare degenerative retinal disease that causes incurable blindness. It occurs as a result of the deficiency of the X-linked CHM gene, which encodes the Rab escort protein 1 (REP1). Gene therapy has been developed to treat CHM using adeno-associated viral vectors and is currently undergoing clinical trials. Expression of the CHM gene is ubiquitous throughout the retina, and it is therefore important to identify which retinal layers are affected in the disease process...
March 14, 2018: Retina
Thérèse M Sassalos, Taylor S Fields, Robert Levine, Hua Gao
PURPOSE: To report a rare case of peripheral retinal neovascularization in a patient diagnosed with cutis marmorata telangiectatica congenita (CMTC). METHODS: Observational case report. RESULTS: A 16-year-old girl was referred to clinic for retinal evaluation. The patient had a clinical diagnosis of CMTC later confirmed by skin biopsy. Examination revealed temporal peripheral retinal sheathing, as well as lattice degeneration in both eyes...
March 14, 2018: Retinal Cases & Brief Reports
Corinna Schmitz, Heidi Noels, Omar El Bounkari, Eva Straussfeld, Remco T A Megens, Marieke Sternkopf, Setareh Alampour-Rajabi, Christine Krammer, Pathricia V Tilstam, Norbert Gerdes, Christina Bürger, Aphrodite Kapurniotu, Richard Bucala, Joachim Jankowski, Christian Weber, Jürgen Bernhagen
The inflammatory cytokine macrophage migration-inhibitory factor (MIF) promotes atherosclerosis via lesional monocyte and T-cell recruitment. B cells have emerged as important components in atherogenesis, but the interaction between MIF and B cells in atherogenesis is unknown. Here, we investigated the atherosclerotic phenotype of Mif-gene deletion in Apoe-/- mice. Apoe-/- Mif-/- mice on a Western-diet exhibited strongly reduced atherosclerotic lesions in brachiocephalic artery (BC) and abdominal aorta compared with controls...
March 15, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Marc N Jarczok, Corina Aguilar-Raab, Julian Koenig, Michael Kaess, Jeremy C Borniger, Randy J Nelson, Martica Hall, Beate Ditzen, Julian F Thayer, Joachim E Fischer
INTRODUCTION: Successful regulation of emotional states is positively associated to mental health, while difficulties in regulating emotions are negatively associated to overall mental health and in particular associated with anxiety or depression symptoms. A key structure associated to socio-emotional regulatory processes is the central autonomic network. Activity in this structure is associated to vagal activity can be indexed noninvasively and simply by measures of peripheral cardiac autonomic modulations such as heart rate variability...
March 15, 2018: Chronobiology International
Martina Gobec, Tihomir Tomašič, Adela Štimac, Ruža Frkanec, Jurij Trontelj, Marko Anderluh, Irena Mlinaric-Rascan, Žiga Jakopin
Muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, has long been known as the smallest fragment possessing adjuvant activity, on the basis of its agonistic action on the nucleotide-binding oligomerization domain-containing protein 2 (NOD2). There is a pressing need for novel adjuvants and NOD2 agonists provide an untapped source of potential candidates. Here, we report the design, synthesis and characterization of a series of novel acyl tripeptides. A pivotal structural element for molecular recognition by NOD2 has been identified, culminating in the discovery of compound 9, the most potent desmuramylpeptide NOD2 agonist to date...
March 15, 2018: Journal of Medicinal Chemistry
Ana Hernández, Paula Arbildi, Cecilia Sóñora, Natalia Del Río, Juan Martin Marques
Tissue transglutaminase is a ubiquitous and multifunctional protein that contribute to several processes such as apoptosis/survival, efferocytosis, inflammation and tissue repairing under physiological and pathological conditions. Several activities can be associated with well established functional domains; in addition, four RNA alternative splice variants have been described, characterized by sequence divergences and residues deletion at the C-terminal domains Tissue transglutaminase is recognized as the central player in the physiopathology of celiac disease mainly through calcium dependent enzymatic activities...
March 15, 2018: Scandinavian Journal of Immunology
Keiichi Koizumi, Minako Hoshiai, Nobuyuki Katsumata, Takako Toda, Hiroaki Kise, Yohei Hasebe, Yosuke Kono, Yuto Sunaga, Masashi Yoshizawa, Atsushi Watanabe, Keiko Kagami, Masako Abe, Kanji Sugita
BACKGROUND: The effect of infliximab (IFX) on immune cells has not been fully reported in Kawasaki disease (KD). To investigate the mechanism of IFX in KD, we examined changes in the abundance of CD14+ CD16+ activated monocytes, regulatory T cells (Treg ), and T-helper cell type 17 (Th17) cells following treatment with IFX. METHODS: We collected peripheral blood from patients with intravenous immunoglobulin (IVIG)-resistant KD and analyzed the absolute counts of CD14+ CD16+ monocytes, Treg cells (CD4+ CD25+ FOXP3+ ) and Th17 cells (CD4+ IL-17A+ ) by flow cytometry...
March 15, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
V S Klimov, V V Kel'makov, N V Chishchina, A V Evsyukov
AIM: The study aim was to evaluate the effectiveness of intraoperative monitoring of motor evoked potentials (MEPs) for predicting changes in the neurological status of patients with cervical spinal cord tumors in the early postoperative period. MATERIAL AND METHODS: The study included 74 patients with intradural cervical spinal cord tumors who were operated on using motor evoked potential monitoring in the period from 2013 to 2016. There were 29 (39%) males and 46 (61%) females...
2018: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
Heather M Young, Fumin Guo, Rachel L Eddy, Geoffrey Maksym, Grace Parraga
Ventilation heterogeneity is a hallmark finding in obstructive lung disease and may be evaluated using a variety of methods including multiple-breath gas-washout and pulmonary imaging. Such methods provide an opportunity to better understand the relationships between structural and functional abnormalities in the lungs, and their relationships with important clinical outcomes. We measured ventilation heterogeneity and respiratory impedance in 100 subjects (50 asthmatics, 22 ex-smokers and 28 COPD), using oscillometry and hyperpolarized3 He magnetic resonance imaging (MRI) and determined their relationships with quality-of-life scores and disease control/exacerbations...
March 15, 2018: Journal of Applied Physiology
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