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Autoimmune syndrome

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https://www.readbyqxmd.com/read/29148404/other-autoinflammatory-disease-genes-in-an-fmf-prevalent-population-a-homozygous-mvk-mutation-and-a-novel-heterozygous-tnfrsf1a-mutation-in-two-different-turkish-families-with-clinical-fmf
#1
İlker Karacan, Serdal Uğurlu, Aslıhan Tolun, Eda Tahir Turanlı, Huri Özdoğan
OBJECTIVES: No MEFV mutations are detected in approximately 10% of the patients with clinical FMF in populations where the disease is highly prevalent. Causative mutations were searched in other genes in two such families with "MEFV negative clinical FMF". METHODS: Father and daughter of family A had attacks of fever, abdominal pain and AA amyloidosis. The two sibs of family B complained of febrile episodes with abdominal pain and arthritis. The patients were clinically investigated...
October 27, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29148124/the-safety-of-live-attenuated-influenza-vaccine-in-children-and-adolescents-2-through-17%C3%A2-years-of-age-a-vaccine-safety-datalink-study
#2
Matthew F Daley, Christina L Clarke, Jason M Glanz, Stanley Xu, Simon J Hambidge, James G Donahue, James D Nordin, Nicola P Klein, Steven J Jacobsen, Allison L Naleway, Michael L Jackson, Grace Lee, Jonathan Duffy, Eric Weintraub
PURPOSE: To evaluate the safety of live attenuated influenza vaccine (LAIV) in children 2 through 17 years of age. METHODS: The study was conducted in 6 large integrated health care organizations participating in the Vaccine Safety Datalink (VSD). Trivalent LAIV safety was assessed in children who received LAIV between September 1, 2003 and March 31, 2013. Eighteen pre-specified adverse event groups were studied, including allergic, autoimmune, neurologic, respiratory, and infectious conditions...
November 17, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/29147923/anti-aminoacyl-trna-synthetase-related-myositis-and-dermatomyositis-clues-for-differential-diagnosis-on-muscle-biopsy
#3
Bruna Cerbelli, Annalinda Pisano, Serena Colafrancesco, Maria Gemma Pignataro, Marco Biffoni, Silvia Berni, Antonia De Luca, Valeria Riccieri, Roberta Priori, Guido Valesini, Giulia d'Amati, Carla Giordano
Anti-synthetase syndrome is an autoimmune disease characterized by autoantibodies toward amino acyl-tRNA synthetases (ARS), anti-Jo 1 being the most commonly detected. Muscle damage develops in up to 90% of ARS-positive patients, characterized by a necrotizing myositis restricted to the perifascicular region. This topographic distribution of muscle damage may lead to a misdiagnosis of dermatomyositis (DM) at muscle biopsy. We compared morphological, immunohistochemical, and histoenzymatic features of muscle from ARS-positive patients (n = 11) with those of DM (n = 7) providing clues for their differential diagnosis...
November 16, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29147884/ocular-flutter-following-zika-virus-infection
#4
Emely Karam, Jose Giraldo, Flor Rodriguez, Carlos E Hernandez-Pereira, Alfonso J Rodriguez-Morales, Gabriela M Blohm, Alberto E Paniz-Mondolfi
Zika virus (ZIKV) is an emerging flavivirus which has been linked to a number of neurologic manifestations such as Guillain-Barré syndrome (GBS), transverse myelitis, and meningo-encephalitis. Ophthalmologic manifestations are increasingly being reported; however, ocular dyskinesias have not been described in this context to date. Herein, we report a case of a 22-year-old female who presented with ocular flutter and associated Guillain-Barré syndrome following acute ZIKV infection. We speculate that although such symptoms may have originated from a direct viral insult, a post-infectious autoimmune mechanism may not be excluded...
November 16, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/29146031/avian-ganglioneuritis-in-clinical-practice
#5
REVIEW
Giacomo Rossi, Robert D Dahlhausen, Livio Galosi, Susan E Orosz
Avian ganglioneuritis (AG) comprises one of the most intricate pathologies in avian medicine and is researched worldwide. Avian bornavirus (ABV) has been shown to be a causative agent of proventricular dilatation disease in birds. The avian Bornaviridae represent a genetically diverse group of viruses that are widely distributed in captive and wild populations around the world. ABV and other infective agents are implicated as a cause of the autoimmune pathology that leads to AG, similar to human Guillain Barrè syndrome...
January 2018: Veterinary Clinics of North America. Exotic Animal Practice
https://www.readbyqxmd.com/read/29145678/-thrombocytosis-and-thrombocytopenia-background-and-clinical-relevance
#6
Kai Wille, Parvis Sadjadian, Martin Griesshammer
Due to the central role of platelets in hemostasis, the clinical relevance of quantitative changes in platelet counts (< 150 G/l or > 450 G/l) may be significant. Thrombopoesis (= production of platelets) occurs in the bone marrow, and the hormone thrombopoetin takes control on its regulation.In thrombocytosis, primary causes have to be distinguished from the far more common reactive (= secondary) reasons. The most important form of primary thrombocytosis occurs in myeloproliferative neoplasms especially in essential thrombocythemia (ET)...
November 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/29145204/comparing-the-clinical-features-and-outcomes-of-acute-hepatitis-e-viral-infections-with-those-of-acute-hepatitis-a-b-and-c-infections-in-korea
#7
Hye Won Oh, Ra Ri Cha, Sang Soo Lee, Chang Min Lee, Wan Soo Kim, Yun Won Jo, Jin Joo Kim, Jae Min Lee, Hong Jun Kim, Chang Yoon Ha, Hyun Jin Kim, Tae Hyo Kim, Woon Tae Jung, Ok Jae Lee
OBJECTIVES: This study investigated the etiology of acute viral hepatitis and compared the clinical features of hepatitis E virus (HEV) infections with those of other acute viral hepatitis infections in Korea. METHODS: This study included 2,357 consecutive patients who were diagnosed with acute hepatitis, based on acute illness with jaundice or elevated alanine aminotransferase levels (>100 IU/L), between January 2007 and January 2016. Acute viral infections were observed in 23 (19...
November 17, 2017: Intervirology
https://www.readbyqxmd.com/read/29142942/complement-activation-induces-neutrophil-adhesion-and-neutrophil-platelet-aggregate-formation-on-vascular-endothelial-cells
#8
Magdalena Riedl, Damien G Noone, Meraj A Khan, Fred G Pluthero, Walter H A Kahr, Nades Palaniyar, Christoph Licht
Introduction: Atypical hemolytic uremic syndrome is a thrombotic microangiopathy, which is linked to hereditary or autoimmune defects in complement activators or regulators present in blood and on vascular endothelial cells. Acute thrombotic microangiopathy episodes are typically preceded by infections, which by themselves would not be expected to manifest HUS. Thus, it is possible that the host immune response contributes to the precipitation of aHUS. However, the mechanisms involved are not fully understood...
January 2017: KI Reports
https://www.readbyqxmd.com/read/29142667/towards-a-further-understanding-of-prenatal-thyroid-theory-of-homosexuality-autoimmune-thyroiditis-polycystic-ovary-syndrome-autism-and-low-birth-weight
#9
https://www.readbyqxmd.com/read/29141828/alternative-diagnoses-in-patients-referred-to-specialized-centers-for-suspected-ms
#10
B I Yamout, S J Khoury, N Ayyoubi, H Doumiati, M Fakhreddine, S F Ahmed, H Tamim, J Y Al-Hashel, R Behbehani, R Alroughani
OBJECTIVES: The aim of this study is to explore the frequency, type, and predictors of alternative diagnoses among patients referred with a recent diagnosis of multiple sclerosis (MS) to two specialized MS centers in the Middle East. METHODS: This is a retrospective review of a prospectively followed cohort of MS patients at 2 University specialized MS centers. All patients referred for MS were included. The final diagnosis was recorded and demographic, clinical, laboratory, electrophysiological and radiological variables were collected...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29141789/a-case-of-seropositive-neuromyelitis-optica-in-a-paediatric-patient-with-co-existing-acute-nephrotic-syndrome
#11
Thomas Volkman, Cheryl Hemingway
Neuromyelitis optica (NMO) and NMO spectrum disorder (NMOSD) is a rare relapsing autoimmune disease of the central nervous system constituting less than 1% of demyelinating diseases (Jeffery and Buncic, 1996). It preferentially affects the optic nerves and spinal cord, with the brain parenchyma generally spared. Demyelinating lesions are characterised by longitudinally extensive transverse myelitis (LETM) and often longitudinally extensive optic neuritis. Following the discovery of a novel pathogenic antibody, Aquaporin 4 in 2004 (Lennon et al...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29140756/cellular-and-molecular-mechanisms-of-autoimmune-hepatitis
#12
G J Webb, G M Hirschfield, E L Krawitt, M E Gershwin
Autoimmune hepatitis is an uncommon idiopathic syndrome of immunemediated destruction of hepatocytes, typically associated with autoantibodies. The disease etiology is incompletely understood but includes a clear association with human leukocyte antigen (HLA) variants and other non- HLA gene variants, female sex, and the environment. Pathologically, there is a CD4+ T cell-rich lymphocytic inflammatory infiltrate with variable hepatocyte necrosis and subsequent hepatic fibrosis. Attempts to understand pathogenesis are informed by several monogenetic syndromes that may include autoimmune liver injury, by several drug and environmental agents that have been identified as triggers in a minority of cases, by human studies that point toward a central role for CD4+ effector and regulatory T cells, and by animal models of the disease...
November 15, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/29140265/anti-inflammatory-potential-of-1-nitro-2-phenylethylene
#13
Michelle A Sugimoto, Márcia de Jesus Amazonas da Silva, Larissa Froede Brito, Rosivaldo Dos Santos Borges, Flávio Almeida Amaral, Ana Paula de Araujo Boleti, Maritza Echevarria Ordoñez, Jose Carlos Tavares, Lirlandia Pires Sousa, Emerson Silva Lima
Inflammation is a reaction of the host to infectious or sterile stimuli and has the physiological purpose of restoring tissue homeostasis. However, uncontrolled or unresolved inflammation can lead to tissue damage, giving rise to a plethora of chronic inflammatory diseases, including metabolic syndrome and autoimmunity pathologies with eventual loss of organ function. Beta-nitrostyrene and its derivatives are known to have several biological activities, including anti-edema, vasorelaxant, antiplatelet, anti-inflammatory, and anticancer...
November 15, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29138598/familial-aggregation-of-myasthenia-gravis-in-affected-families-a-population-based-study
#14
Fu-Chao Liu, Chang-Fu Kuo, Lai-Chu See, Hsin-I Tsai, Huang-Ping Yu
Introduction: Myasthenia gravis (MG) is clinically heterogeneous and can be life-threatening if bulbar or respiratory muscles are involved. However, relative contributions of genetic, shared, and nonshared environmental factors to MG susceptibility remain unclear. The aim of this study was to examine the familial aggregation and heritability of MG and the relative risks (RRs) of other autoimmune diseases in the relatives of patients with MG. Methods: A population-based family study using the Taiwan National Health Insurance (NHI) Database was conducted...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/29137621/copa-syndrome-in-an-icelandic-family-caused-by-a-recurrent-missense-mutation-in-copa
#15
Brynjar O Jensson, Sif Hansdottir, Gudny A Arnadottir, Gerald Sulem, Ragnar P Kristjansson, Asmundur Oddsson, Stefania Benonisdottir, Hakon Jonsson, Agnar Helgason, Jona Saemundsdottir, Olafur T Magnusson, Gisli Masson, Gudmundur A Thorisson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Ingileif Jonsdottir, Vigdis Petursdottir, Jon R Kristinsson, Daniel F Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Gunnar Gudmundsson, Kari Stefansson
BACKGROUND: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. CASE PRESENTATION: Here we describe an Icelandic family with three affected individuals over two generations with a rare clinical presentation of lung and joint disease and a histological diagnosis of follicular bronchiolitis...
November 14, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29135488/endocrine-manifestations-of-down-syndrome
#16
Rachel Whooten, Jessica Schmitt, Alison Schwartz
PURPOSE OF REVIEW: To summarize the recent developments in endocrine disorders associated with Down syndrome. RECENT FINDINGS: Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures...
November 11, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29134567/abdominal-pain-in-patient-with-antiphospholipid-syndrome-the-role-of-mdct-angiography-on-visceral-blood-vessels
#17
Jovica Saponjski, Ljudmila Stojanovich, Jelena Saponjski, Milorad Mirilovic, Dusan Saponjski
Antiphospholipid syndrome (APS) is an autoimmune disease defined by accelerated atherosclerosis, arterial and venous thrombosis, fetal loss, and the presence of antiphospholipid antibodies (aPL) in the serum and which leads to the occurrence of various vascular events. Nonspecific abdominal pain can be one of the symptoms due to changes on visceral blood vessels. The goal of our work is to show the results we obtained in multidetector computed tomography (MDCT) angiography examination of visceral arteries, comparing patients with primary antiphospholipid syndrome (PAPS) and secondary antiphospholipid syndrome (SAPS) with control group...
November 13, 2017: Immunologic Research
https://www.readbyqxmd.com/read/29132962/autoinflammatory-phenotypes-in-aicardi-gouti%C3%A3-res-syndrome-with-interferon-upregulation-and-serological-autoimmune-features
#18
Yuji Sugawara, Kohsuke Imai, Ayako Kashimada, Kengo Moriyama, Shimpei Baba, Ryuta Nishikomori, Mizuho Motegi, Yasuo Takeuchi, Tomohiro Morio
In an Aicardi-Goutières syndrome patient, cimetidine successfully controlled periodic fever with improved serum autoimmune marker levels, suggesting the presence of crosstalk between autoinflammation and autoimmunity in type I interferonopathy.
November 10, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29132233/prospects-for-modulating-the-cd40-cd40l-pathway-in-the-therapy-of-the-hyper-igm-syndrome
#19
Xiangxue Meng, Bin Yang, Wen-Chen Suen
The critical role of the CD40/CD40L pathway in B-cell proliferation, immunoglobulin (Ig) isotype switching and germinal center formation has been studied and described extensively in previous literature. Interruption of the CD40/CD40L signal causes hyper-IgM (HIGM) syndrome, which has been classified and recognized as a group of rare inherited immune deficiency disorders. Defects in CD40 and CD40L interactions or in downstream signaling molecules, including activation-induced cytidine deaminase, uracyl-DNA-glycosylase, NF-κB and DNA repair enzymes, result in an increased level of serum IgM and a significantly decreased or absent level of IgA, IgG and IgE that is accompanied by severe recurrent infections and autoimmune diseases...
January 1, 2017: Innate Immunity
https://www.readbyqxmd.com/read/29131924/when-an-orbital-infection-isn-t-infectious-at-all-a-review-of-orbital-inflammatory-syndrome
#20
Sadie A LaPonsie, Peter K Rabiah
Orbital inflammatory syndrome (OIS) includes a wide range of clinical manifestations and may initially be misdiagnosed as orbital cellulitis due similar symptoms of fever, periorbital swelling, and pain with eye movements. A diagnosis of OIS requires evaluation for underlying systemic disorders including autoimmune disorders and thyroid disease. Symptoms typically improve rapidly after initiation of steroid therapy, although recurrence can occur. This article presents an illustrative case of a 13-year-old girl with OIS...
November 1, 2017: Pediatric Annals
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