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https://www.readbyqxmd.com/read/28726667/clinical-and-genetic-peculiarities-of-vascular-manifestations-of-antiphospholipid-syndrome-case-report
#1
D Vasylyev, L Chernobay, O Vasylieva, M Oliinyk, M Vashuk
Pathogenetic mechanisms of the development of antiphospholipid syndrome (APS) are considered in the article, which is the basis for the development of clinical manifestations and laboratory markers of APS. The modern literature data are analyzed, according to which the presence of antiphospholipid antibodies is a hypercoagulable background, and the formation of thrombi occurs under the influence of other allowing procoagulation factors. The classification of the main types of hereditary thrombophilia is given, which is the primary disorder, against the background of which an autoimmune thrombosis APS develops...
June 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28726523/investigational-therapies-for-the-treatment-of-narcolepsy
#2
Stefano de Biase, Annacarmen Nilo, Gian Luigi Gigli, Mariarosaria Valente
Narcolepsy is a chronic sleep disorder characterized by a pentad of excessive daytime sleepiness (EDS), cataplexy, sleep paralysis, hypnagogic/hypnopompic hallucinations, and disturbed nocturnal sleep. While non-pharmacological treatments are sometimes helpful, more than 90% of narcoleptic patients require a pharmacological treatment. Areas covered: The present review is based on an extensive Internet and PubMed search from 1994 to 2017. It is focused on drugs currently in development for the treatment of narcolepsy...
July 20, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/28726005/the-role-of-sleep-in-pemphigus-a-review-of-mechanisms-and-perspectives
#3
Matheus Negrao Pedroni, Camila Hirotsu, Adriana Maria Porro, Sergio Tufik, Monica Levy Andersen
Pemphigus is an autoimmune bullous disease that causes the development of blisters and erosions on the skin and/or mucosa. Its inflammatory process is mediated by cytokines, which interact with sleep in a bidirectional manner. Pain, a frequent symptom due to pemphigus lesions, is well known to impair sleep quality. Depression is also associated with pemphigus and pro-inflammatory cytokines and may impair sleep. Additionally, a common relationship among other dermatological diseases and sleep has increasingly been described...
July 19, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28725949/tubulointerstitial-nephritis-induced-hypophosphatemic-osteomalacia-in-sj%C3%A3-gren-s-syndrome-a-case-report-and-review-of-the-literature
#4
REVIEW
Yan Geng, Youlu Zhao, Zhuoli Zhang
Sjögren's syndrome (SS) is a chronic autoimmune inflammatory disease that typically affects the salivary and lacrimal glands. Renal involvement is relatively uncommon and may precede other complaints. Tubulointestitial nephritis (TIN) is the most common renal involvement in SS. Osteomalacia occurring as the first manifestation of renal tubular disorder due to SS is very rare. We report a 39-year-old male who presented with polydipsia, polyuria, and multiple bone pain. Bone density test showed severe osteoporosis, and laboratory findings suggested hypokalemia, hypophosphatemia, and vitamin D deficiency, which supported the diagnosis of hypophosphatemic osteomalacia...
July 20, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28725222/neuronal-surface-autoantibodies-in-neuropsychiatric-disorders-are-there-implications-for-depression
#5
REVIEW
Shenghua Zong, Carolin Hoffmann, Marina Mané-Damas, Peter Molenaar, Mario Losen, Pilar Martinez-Martinez
Autoimmune diseases are affecting around 7.6-9.4% of the general population. A number of central nervous system disorders, including encephalitis and severe psychiatric disorders, have been demonstrated to associate with specific neuronal surface autoantibodies (NSAbs). It has become clear that specific autoantibodies targeting neuronal surface antigens and ion channels could cause severe mental disturbances. A number of studies have focused or are currently investigating the presence of autoantibodies in specific mental conditions such as schizophrenia and bipolar disorders...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28723802/tocilizumab-for-uncontrollable-systemic-inflammatory-response-syndrome-complicating-adult-onset-still-disease-case-report-and-review-of-literature
#6
Asami Masui-Ito, Ryuji Okamoto, Kaoru Ikejiri, Mika Fujimoto, Muneyoshi Tanimura, Shiro Nakamori, Tomohiro Murata, Eiji Ishikawa, Norikazu Yamada, Hiroshi Imai, Masaaki Ito
RATIONALE: Adult-onset Still disease (AOSD) is a rare systemic inflammatory disease of unknown etiology characterized by evanescent salmon-pink rash, fever spikes, arthralgia, and lymphadenopathy. AOSD usually has a good prognosis, but it can sometimes be fatal, especially when it is complicated by systemic inflammatory response syndrome (SIRS) and multiple organ failure. PATIENT CONCERNS: A previously healthy 26-year-old woman was referred to our hospital for persistent high fever and mild systemic edema...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28722725/the-monogenic-autoinflammatory-diseases-define-new-pathways-in-human-innate-immunity-and-inflammation
#7
REVIEW
Kalpana Manthiram, Qing Zhou, Ivona Aksentijevich, Daniel L Kastner
Autoinflammatory diseases were first recognized nearly 20 years ago as distinct clinical and immunological entities caused by dysregulation in the innate immune system. Since then, advances in genomic techniques have led to the identification of new monogenic disorders and their corresponding signaling pathways. Here we review these monogenic autoinflammatory diseases, ranging from periodic fever syndromes caused by dysregulated inflammasome-mediated production of the cytokine IL-1β to disorders arising from perturbations in signaling by the transcription factor NF-κB, ubiquitination, cytokine signaling, protein folding, type I interferon production and complement activation, and we further examine their molecular mechanisms...
July 19, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28722709/regulation-of-inflammation-by-microbiota-interactions-with-the-host
#8
REVIEW
J Magarian Blander, Randy S Longman, Iliyan D Iliev, Gregory F Sonnenberg, David Artis
The study of the intestinal microbiota has begun to shift from cataloging individual members of the commensal community to understanding their contributions to the physiology of the host organism in health and disease. Here, we review the effects of the microbiome on innate and adaptive immunological players from epithelial cells and antigen-presenting cells to innate lymphoid cells and regulatory T cells. We discuss recent studies that have identified diverse microbiota-derived bioactive molecules and their effects on inflammation within the intestine and distally at sites as anatomically remote as the brain...
July 19, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28722479/oxindole-based-syk-and-jak3-dual-inhibitors-for-rheumatoid-arthritis-designing-synthesis-and-biological-evaluation
#9
Maninder Kaur, Manjinder Singh, Om Silakari
AIM: Autoimmune disorders have complex pathophysiology and focus is laid on the development of multitargeted agents. Two well-established kinases: SYK and JAK3, were considered to design dual inhibitors as potential therapeutics using various molecular-modeling approaches. Mehodology: Pharmacophore models for SYK and JAK3 were generated using oxindole-based inhibitors. Furthermore, an in-house database was designed that was screened against the best selected models. The obtained hits were employed for docking analysis and subjected to MM-GBSA analysis and molecular dynamic simulation...
July 19, 2017: Future Medicinal Chemistry
https://www.readbyqxmd.com/read/28721130/premature-ovarian-failure
#10
REVIEW
Katarzyna Jankowska
Premature ovarian failure (POF) is the term usually used to describe women aged younger than 40 years, who present with amenorrhoea, hypergonadotropic hypogonadism, and infertility. POF is a devastating diagnosis for reproductive-aged women. The clinical presentation is diverse, and several different disorders can lead to premature ovarian failure. POF has serious health consequences, including psychological distress, infertility, osteoporosis, autoimmune disorders, ischaemic heart disease, and increased risk of mortality...
June 2017: Przeglad Menopauzalny, Menopause Review
https://www.readbyqxmd.com/read/28720555/readability-of-wikipedia-pages-on-autoimmune-disorders-systematic-quantitative-assessment
#11
Abdulla Watad, Nicola Luigi Bragazzi, Francesco Brigo, Kassem Sharif, Howard Amital, Dennis McGonagle, Yehuda Shoenfeld, Mohammad Adawi
BACKGROUND: In the era of new information and communication technologies, the Internet is being increasingly accessed for health-related information. Indeed, recently published patient surveys of people with autoimmune disorders confirmed that the Internet was reported as one of the most important health information sources. Wikipedia, a free online encyclopedia launched in 2001, is generally one of the most visited websites worldwide and is often consulted for health-related information...
July 18, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28720552/autoimmune-limbic-encephalitis-associated-with-type-1-diabetes-mellitus
#12
Onur Akın, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Esra Döğer, Yılmaz Akbaş, Aysun Bideci, Özge Yüce, Kıvılcım Gücüyener, Orhun Çamurdan, Neşe Karabacak, Peyami Cinaz
Glutamic acid decarboxylase (GAD) antibodies can participate in the pathogenesis of both type 1 diabetes mellitus (T1DM) and limbic encephalitis (LE). However, an association between T1DM and LE is very rare. We report a patient who was diagnosed with type 1 diabetes mellitus six months after encountering limbic encephalitis. A 16-year-old boy was admitted with behavioral changes, confusion, and headache. He was diagnosed with LE. Anti-GAD levels were high. He was treated with pulse methylprednisolone. During the steroid treatment, neurological symptoms improved but hyperglycemia occurred...
July 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28720148/multifocal-gastric-adenocarcinoma-in-a-patient-with-lrba-deficiency
#13
Nina Bratanič, Jernej Kovač, Katka Pohar, Katarina Trebušak Podkrajšek, Alojz Ihan, Tadej Battelino, Magdalena Avbelj Stefanija
BACKGROUND: Lipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is characterized by primary immunodeficiency and autoimmunity. Cancer may present another feature of LRBA deficiency. We describe a case history of a young adult with LRBA deficiency and two independent malignancies. METHODS: Family-trio whole exome sequencing with unbiased phenotype ontology approach was used for identification of causative mutations of a primary immune deficiency disorder...
July 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28719723/de-novo-hhv-8-tumors-induced-by-rituximab-in-autoimmune-or-inflammatory-systemic-diseases
#14
Amandine Perier, Léa Savey, Anne-Geneviève Marcelin, Philippe Serve, David Saadoun, Stéphane Barete
OBJECTIVES: HHV-8, also known as Kaposi's sarcoma (KS) associated herpesvirus is involved in KS and other tumors comprising multicentric Castleman disease (MCD) and primary effusion lymphoma (PEL). Rituximab is currently used for treatment of several autoimmune or inflammatory diseases and humoral organ rejection. De novo HHV-8 induced tumors by rituximab used for autoimmune or inflammatory diseases or humoral organ rejection have not been reported. METHODS: In this retrospective study, we report clinical, virological and pathology of five HIV-negative male patients with HHV-8-induced tumors following rituximab therapy...
July 18, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28719615/a-human-tissue-based-functional-assay-platform-to-evaluate-the-immune-function-impact-of-small-molecule-inhibitors-that-target-the-immune-system
#15
Cristina St Pierre, Jane Guo, John D Shin, Laura W Engstrom, Hyun-Hee Lee, Alan Herbert, Laura Surdi, James Baker, Michael Salmon, Sanjiv Shah, J Michael Ellis, Hani Houshyar, Michael A Crackower, Melanie A Kleinschek, Dallas C Jones, Alexandra Hicks, Dennis M Zaller, Stephen E Alves, Ravisankar A Ramadas
While the immune system is essential for the maintenance of the homeostasis, health and survival of humans, aberrant immune responses can lead to chronic inflammatory and autoimmune disorders. Pharmacological modulation of drug targets in the immune system to ameliorate disease also carry a risk of immunosuppression that could lead to adverse outcomes. Therefore, it is important to understand the 'immune fingerprint' of novel therapeutics as they relate to current and, clinically used immunological therapies to better understand their potential therapeutic benefit as well as immunosuppressive ability that might lead to adverse events such as infection risks and cancer...
2017: PloS One
https://www.readbyqxmd.com/read/28719506/zika-virus-associated-ocular-and-neurologic-disorders-the-emergence-of-new-evidence
#16
Fatih Şahiner, Ali Korhan Siğ, Ümit Savaşçi, Kemal Tekin, Fahrettin Akay
BACKGROUND: It has been approximately 70 years since the discovery of the Zika virus (ZIKV). It had been established that the virus causes mild infections, and is confined to Africa and Asia; however, major changes in the clinical and epidemiologic patterns of ZIKV infection have occurred in recent years. The virus has attracted intense interest because of the possible association of several autoimmune and neurodevelopmental disorders. METHODS: We present a summary of the articles that attempt to explain the ZIKV unknowns, and strengthen the association with some disorders that are thought to be related to ZIKV, by describing the discovery milestones from the initial identification of the virus to the present day...
July 13, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28718500/neurofilament-light-as-an-immune-target-for-pathogenic-antibodies
#17
Fabiola Puentes, Baukje J van der Star, Stephanie D Boomkamp, Markus Kipp, Louis Boon, Isabel Bosca, Joel Raffel, Sharmilee Gnanapavan, Paul van der Valk, Jodie Stephenson, Susan C Barnett, David Baker, Sandra Amor
Antibodies to neuronal antigens are associated with many neurological diseases including paraneoplastic neurological disorders, epilepsy, amyotrophic lateral sclerosis and multiple sclerosis. Immunisation with neuronal antigens such as neurofilament light NF-L, a neuronal intermediate filament in axons, has been shown to induce neurological disease and spasticity in mice. Also, while antibodies to NF-L are widely used as surrogate biomarkers of axonal injury in amyotrophic lateral sclerosis and multiple sclerosis, it remains to be elucidated if antibodies to NF-L contribute to neurodegeneration and neurological disease...
July 17, 2017: Immunology
https://www.readbyqxmd.com/read/28717636/orthodontic-treatment-for-a-patient-with-multiple-sclerosis
#18
Manal A Bakathir
Multiple sclerosis (MS) is a chronic, autoimmune inflammatory disorder of the central nervous system (CNS) that affects myelinated axons, destroying the myelin and damaging axons to varying degrees. The course of MS is highly varied and unpredictable. Metals used during orthodontic treatment can negatively affect imaging techniques used to diagnose and monitor the progression of MS, while medications used to treat MS can negatively affect orthodontic tooth movement. The present case report highlights some of the challenges encountered during orthodontic treatment of a patient with MS and how to overcome them...
July 2017: Journal of Orthodontic Science
https://www.readbyqxmd.com/read/28717429/circulating-concentrations-of-interleukin-il-17-in-patients-with-multiple-sclerosis-evaluation-of-the-effects-of-gender-treatment-disease-patterns-and-il-23-receptor-gene-polymorphisms
#19
Seyed Ali Ghaffari, Maryam Nemati, Hossain Hajghani, Hossainali Ebrahimi, Abdolkarim Sheikhi, Abdollah Jafarzadeh
Background: Interleukin (IL)-17/IL-23 axis performs a prominent role in the pathogenesis of several autoimmune disorders. This study aimed to investigate the concentrations of IL-17 in patients with multiple sclerosis (MS) and its relationship with gender, medication, disease forms and single nucleotide polymorphisms (SNP) in IL-23R gene, including rs11209026 and rs1004819. Methods: The blood specimens were obtained from 135 healthy individuals and 135 MS patients. The patients exhibited relapsing-remitting (RRMS; n = 65), primary progressive (PPMS; n = 19), secondary progressive (SPMS; n = 35) or progressive relapsing (PRMS; n = 14) MS...
January 5, 2017: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/28716651/significance-of-a-to-i-rna-editing-of-transcripts-modulating-pharmacokinetics-and-pharmacodynamics
#20
REVIEW
Masataka Nakano, Miki Nakajima
RNA editing is a post-transcriptional process that alters the nucleotide sequence of RNA transcripts to generate transcriptome diversity. Among the various types of RNA editing, adenosine-to-inosine (A-to-I) RNA editing is the most frequent type of RNA editing in mammals. Adenosine deaminases acting on RNA (ADAR) enzymes, ADAR1 and ADAR2, convert adenosines in double-stranded RNA structures into inosines by hydrolytic deamination. Inosine forms a base pair with cytidine as if it were guanosine; therefore, the conversion may affect the amino acid sequence, splicing, microRNA targeting, and miRNA maturation...
July 14, 2017: Pharmacology & Therapeutics
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