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Autoimmune disorders

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https://www.readbyqxmd.com/read/29778561/severe-xanthomatosis-in-heterozygous-familial-hypercholesterolemia
#1
Sumayah Aljenedil, Isabelle Ruel, Kevin Watters, Jacques Genest
BACKGROUND: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29777250/prevalence-of-temporomandibular-disorders-in-patients-with-hashimoto-thyroiditis
#2
Alina Grozdinska, Elisabeth Hofmann, Matthias Schmid, Ursula Hirschfelder
OBJECTIVES: Autoimmune thyroid disease (AITD), also known as Hashimoto thyroiditis (HT), is a degenerative inflammatory disease with high prevalence among women and has been associated with fibromyalgia and widespread chronic pain. The goal was to determine the frequency of temporomandibular disorders (TMD) in patients with HT. METHODS: In all, 119 women (age 19-60 years) were divided into a study (52 women diagnosed with HT) and a control (67 healthy individuals, of which 15 were excluded) group...
May 17, 2018: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/29776888/iga-vasculitis-as-a-presentation-of-human-immunodeficiency-virus-infection
#3
Anahy M Brandy-García, Jorge Santos-Juanes, Silvia Suarez, Luis Caminal-Montero
IgA vasculitis is a small-vessel vasculitis mediated by immune complexes. In clinical terms, it is characterized by palpable purpura in the lower limbs, joint involvement in the form of arthralgia or arthritis, and gastrointestinal and renal involvement (this will mark a poorer prognosis in adults). Infectious processes, mainly in the upper respiratory tract, are frequently found to be triggers. On the other hand, human immunodeficiency virus (HIV) causes immune dysfunction, which triggers hypergammaglobulinemia and can trigger autoimmune disorders...
May 15, 2018: Reumatología Clinica
https://www.readbyqxmd.com/read/29773681/decreased-expression-of-circulating-aire-and-increased-tfh-tfr-cells-in-myasthenia-gravis-patients
#4
Sijia Zhao, Jiaqi Ding, Shengyuan Wang, Chuan Li, Peng Guo, Min Zhang, Zhuyi Li
Myasthenia gravis (MG) is a rare prototypical autoimmune disorder caused by antibodies (Ab) against postsynaptic membrane proteins. Most reports have investigated the role of Autoimmune regulator gene (Aire) in thymic tissue in machianism of MG initiation. So far, the expression of Aire in human peripheral blood cells(we call it circulating Aire expression in the following passage) has not been reported. Herein, we explore the expression of Aire in peripharal blood, circulating T follicular helper (cTfh) and T follicular regulatory (cTfr) cells in MG patients...
May 17, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29773357/acute-transverse-myelitis-following-an-opsoclonus-myoclonus-syndrome-an-unusual-presentation
#5
Thomas Simon, Emmanuel Cheuret, Léa Fiedler, Catherine Mengelle, Eloïse Baudou, Kumaran Deiva
Opso-myoclonus syndrome (OMS) is a very rare and severe condition. Ataxia, opsoclonus, myoclonus and/or behavioral and sleeping disturbances define that autoimmune disorder syndrome which is paraneoplastic or triggered by an infection. Here, we report a 3 year-old immunocompetent boy who developed an atypical OMS which was later complicated by an acute transverse myelitis. Screening for neuroblastoma was negative and extensive infectious screening revealed an active HHV-6 infection confirmed by blood and cerebrospinal fluid PCR...
May 8, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29772544/antigen-specific-therapy-of-graves%C3%A2-disease-and-orbitopathy-by-induction-of-tolerance
#6
Martin Ungerer, Julia Fabbender, Hans-Peter Holthoff
Graves´ disease is an autoimmune disorder, which is characterized by stimulatory antibodies targeting the human thyrotropin receptor (TSHR), resulting in hyperthyroidism and multiple organ damage. The disease can be modelled in mice using adenoviral immunizations with the extracellular A subunit of the TSHR, which induces a long-term stable disease state. TSHR binding cAMP-stimulatory antibodies, thyroid enlargement, elevated serum thyroxin levels, tachycardia, cardiac hypertrophy and orbitopathy are observed in these Ad-TSHR-immunized mice...
June 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/29771386/immunotherapy-in-cns-cancers-the-role-of-immune-cell-trafficking
#7
Nivedita M Ratnam, Mark R Gilbert, Amber J Giles
Glioblastoma (GBM) is a highly malignant CNS tumor with very poor survival despite intervention with conventional therapeutic strategies. Although the CNS is separated from the immune system by the blood-brain barrier (BBB) and the blood-cerebrospinal fluid barrier (BCSFB), emerging evidence of immune surveillance and the selective infiltration of GBMs by immune suppressive cells indicates that there is breakdown or compromise of these physical barriers. This in turn offers hope that immunotherapy can be applied to specifically target and reduce tumor burden...
May 15, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/29770221/risperidone-induced-type-2-diabetes-presenting-with-diabetic-ketoacidosis
#8
Clarissa Ern Hui Fang, Mohammed Faraz Rafey, Aine Cunningham, Sean F Dinneen, Francis M Finucane
A 28-year-old male presented with 2 days of vomiting and abdominal pain, preceded by 2 weeks of thirst, polyuria and polydipsia. He had recently started risperidone for obsessive-compulsive disorder. He reported a high dietary sugar intake and had a strong family history of type 2 diabetes mellitus (T2DM). On admission, he was tachycardic, tachypnoeic and drowsy with a Glasgow Coma Scale (GCS) of 10/15. We noted axillary acanthosis nigricans and obesity (BMI 33.2 kg/m2 ). Dipstick urinalysis showed ketonuria and glycosuria...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29769726/microglial-control-of-astrocytes-in-response-to-microbial-metabolites
#9
Veit Rothhammer, Davis M Borucki, Emily C Tjon, Maisa C Takenaka, Chun-Cheih Chao, Alberto Ardura-Fabregat, Kalil Alves de Lima, Cristina Gutiérrez-Vázquez, Patrick Hewson, Ori Staszewski, Manon Blain, Luke Healy, Tradite Neziraj, Matilde Borio, Michael Wheeler, Loic Lionel Dragin, David A Laplaud, Jack Antel, Jorge Ivan Alvarez, Marco Prinz, Francisco J Quintana
Microglia and astrocytes modulate inflammation and neurodegeneration in the central nervous system (CNS)1-3 . Microglia modulate pro-inflammatory and neurotoxic activities in astrocytes, but the mechanisms involved are not completely understood4,5 . Here we report that TGFα and VEGF-B produced by microglia regulate the pathogenic activities of astrocytes in the experimental autoimmune encephalomyelitis (EAE) mouse model of multiple sclerosis. Microglia-derived TGFα acts via the ErbB1 receptor in astrocytes to limit their pathogenic activities and EAE development...
May 16, 2018: Nature
https://www.readbyqxmd.com/read/29769579/hla-class-ii-haplotypes-and-autism-spectrum-disorders
#10
Meriem Bennabi, Alexandru Gaman, Richard Delorme, Wahid Boukouaci, Céline Manier, Isabelle Scheid, Nassima Si Mohammed, Djaouida Bengoufa, Dominique Charron, Rajagopal Krishnamoorthy, Marion Leboyer, Ryad Tamouza
Infections and autoimmunity are associated with autism spectrum disorders (ASD), with both strongly influenced by the genetic regulation of the human leukocyte antigen (HLA) system. The relationship between ASD and the HLA genetic diversity requires further investigation. Using a case control design, the distribution of HLA class II-DRB1 and DQB1 alleles, genotypes and haplotypes were investigated in ASD patients, versus healthy controls (HC). ASD patients meeting DSM-IV TR criteria and HC (474 and 350 respectively) were genotyped at medium resolution using a Luminex-based SSO technology...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29767269/-igg4-associated-cholangitis-clinical-presentation-of-an-overlooked-disease-entity
#11
REVIEW
T Herta, J Verheij, U Beuers
IgG4-associated cholangitis (IAC) is the hepatobiliary manifestation of immunoglobulin G4-related disease, which is an immune-mediated fibroinflammatory systemic disorder characterised by often elevated IgG4 serum levels and typical histopathological findings in affected tissues. IAC is frequently (>90%) accompanied by autoimmune pancreatitis type 1 (AIP), which is the pancreatic manifestation of immunoglobulin G4-related disease. In 80-85% of the cases patients with IAC are male, above 50 years of age and present with jaundice and weight loss...
May 16, 2018: Der Internist
https://www.readbyqxmd.com/read/29766815/old-and-new-treatments-for-pediatric-autoimmune-hepatitis
#12
Silvia Nastasio, Giuseppe Maggiore, Marco Sciveres, Lorenza Matarazzo
Autoimmune hepatitis is a rare inflammatory disease of the liver that most frequently affects children and young adults. It is a multifactorial disease of unknown etiology, characteristically progressive in nature, and if left untreated, may lead to cirrhosis and terminal liver failure. It has been known for several decades now that immunosuppressive treatment convincingly alters the outcome of most patients with autoimmune hepatitis and as such it should be started as soon as diagnosis is made. Primary goals of treatment are: normalization of hepatocellular function, extinction of the hepatic necroinflammatory process, and maintenance of a stable remission, thus preventing progression to cirrhosis and its complications...
May 16, 2018: Current Pediatric Reviews
https://www.readbyqxmd.com/read/29766809/associations-between-depressive-disorders-and-inflammatory-rheumatic-diseases
#13
Ozkan Varan, Hakan Babaoglu, Berna Goker
Depressive disorders, are not only common but also among the leading causes of disability worldwide. They are associated with increased incidences of various other diseases. It has been shown that in patients with autoimmune diseases, when depression coexists, the quality of life is worse and medical treatment and management is compromised. Depression-like symptoms, such as fatigue and disinterest are also common in inflammatory rheumatic diseases and often associated with poor quality of life. Medical therapy targeting inflammation results in alleviation of these symptoms in many patients...
May 15, 2018: Current Topics in Medicinal Chemistry
https://www.readbyqxmd.com/read/29766733/-hemophagocytic-lymfohistiocytosis-in-adults-review-and-case-report
#14
Jiří Šrámek, Thomas Karvunidis, Daniel Lysák, Martin Harazim, Michal Karas, Pavel Jindra
Hemophagocytic lymfohistiocytosis (HLH) is rare, life-threatening condition, characterized by excessive activation of immune system with subsequent proinflammatory state resulting in multiorgan failure. Most frequently, it appears in infancy as a primary disorder caused by mutation of immune-regulatory genes. Increasingly, HLH is being diagnosed as a secondary - adult - form, which occurs as a result of aberrant immune response. Viral or bacterial systemic infections, malignancy with a predominance of lymphoproliferative disorders and autoimmune diseases are the most common triggers...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29766725/-the-prevalence-of-type-2-diabetes-mellitus-in-patients-with-autoimmune-thyroiditis-in-hypothyroid-stadium
#15
Štefan Sotak, Ivica Lazúrová, Marek Felšöci, Božena Nováková, Hedviga Wagnerová
INTRODUCTION: Autoimmune thyroiditis (AIT) and type 2 diabetes mellitus (DM2T) are the two most common endocrinological diseases worldwide. The relationship between T1DM and autoimmune thyreopathies is known and described, but the relationship between thyreopathies and diabetes type 2 is not clarified sufficiently through that studies manifest increasingly the connection between them. OBJECTIVE: Investigate the prevalence of DM2T in patients with AIT in hypothyroid stadium and compare with common population and investigate a possible association between thyroid and glucose metabolism parameters...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29766684/neuromyelitis-optica-review-and-utility-of-testing-aquaporin-4-antibody-in-typical-optic-neuritis
#16
Meagan Seay, Janet C Rucker
Neuromyelitis optica (NMO) is an autoimmune, inflammatory demyelinating disorder often leading to severe vision impairment and disability. The discovery of a diagnostic biomarker, the aquaporin-4 antibody (AQP4-IgG), transformed the clinical diagnosis and treatment of NMO and broadened the spectrum of disease [NMO spectrum disorders (NMOSD)]. Though the antibody is highly sensitive and specific to NMOSD, routine testing in patients with typical optic neuritis is considered controversial. This article will provide a brief review of NMOSD and highlight the pros and cons of routine testing in typical optic neuritis...
May 16, 2018: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/29766276/anti-ganglionic-achr-antibodies-in-japanese-patients-with-motility-disorders
#17
Akihiro Mukaino, Hitomi Minami, Hajime Isomoto, Hitomi Hamamoto, Eikichi Ihara, Yasuhiro Maeda, Osamu Higuchi, Tohru Okanishi, Yohei Kokudo, Kazushi Deguchi, Fumisato Sasaki, Toshihito Ueki, Ken-Ya Murata, Takeshi Yoshida, Mistuyo Kinjo, Yoshihiro Ogawa, Akio Ido, Hidenori Matsuo, Kazuhiko Nakao, Shunya Nakane
BACKGROUND: The existence of several autoantibodies suggests an autoimmune basis for gastrointestinal (GI) dysmotility. Whether GI motility disorders are features of autoimmune autonomic ganglionopathy (AAG) or are related to circulating anti-ganglionic acetylcholine receptor (gAChR) antibodies (Abs) is not known. The aim of this study was to determine the associations between autonomic dysfunction, anti-gAChR Abs, and clinical features in patients with GI motility disorders including achalasia and chronic intestinal pseudo-obstruction (CIPO)...
May 15, 2018: Journal of Gastroenterology
https://www.readbyqxmd.com/read/29765934/autoimmune-gastritis-in-the-pediatric-age-an-underestimated-condition-report-of-two-cases-and-review
#18
Chiara Saglietti, Amedeo Sciarra, Karim Abdelrahman, Vanessa Schneider, Arti Karpate, Andreas Nydegger, Christine Sempoux
Background: Diagnosis of pediatric autoimmune gastritis (AIG) in children is important due to poor outcome and risk of malignancy. This condition is often underestimated in the clinico-pathologic diagnostic work-up, leading to delayed time-to-diagnosis. To increase the awareness of this condition in the pediatric population, we present two cases encountered at our institution, discuss their clinical, biological, and histological presentations in relation with evidence from the literature, and propose an algorithm for diagnosis and follow-up of AIG in children...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29765437/evaluation-of-ovarian-reserve-in-women-with-overt-or-subclinical-hypothyroidism
#19
Ferit Kerim Kucukler, Umit Gorkem, Yasin Simsek, Ramazan Kocabas, Serdar Guler
Introduction: Thyroid dysfunction is among the most common autoimmune disorders in women of reproductive age. Previous studies have shown the association between autoimmune thyroid disease (AITD) and infertility. Anti-Müllerian hormone (AMH) is secreted by granulosa cells and is a useful marker for assessment of ovarian reserve. In the present study, we sought to evaluate the ovarian reserves of women with autoimmune thyroid disorder by measurement of AMH values. Material and methods: This prospective study included women with newly diagnosed AITD aged between 20 and 40 years...
April 2018: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29765143/other-immunomodulatory-agent-related-lymphoproliferative-diseases-a-single-center-series-of-72-biopsy-confirmed-cases
#20
Lukas Marcelis, Charlien Berghen, Alexandra De Zutter, Pauline Biesemans, Peter Vandenberghe, Gregor Verhoef, Olivier Gheysens, Xavier Sagaert, Daan Dierickx, Thomas Tousseyn
Ongoing development of new drugs, as well as novel indications in the treatment of autoimmune diseases leads to the increasing use of immunomodulatory and immunosuppressive drugs. Immunomodulatory agent-related lymphoproliferative disorders are a known and potentially life threatening complication of chronic administration of these drugs, but are less well characterized compared with post-transplant lymphoproliferative disorders. The heterogeneous drug targets, various underlying disease indications, different drug combinations used and relatively low incidence render data collection and interpretation difficult...
May 15, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
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