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https://www.readbyqxmd.com/read/28634314/-a-case-of-moyamoya-disease-associated-with-sapho-syndrome
#1
Nobutaka Horie, Mayuko Baba, Ken Kawada, Yuuki Matsunaga, Eisaku Sadakata, Yoichi Morofuji, Tsuyoshi Izumo, Minoru Morikawa, Takeo Anda, Takayuki Matsuo
Moyamoya disease is a unique occlusive disease of the internal carotid artery(ICA)with moyamoya vessels that can lead to transient ischemic attacks and hemorrhagic stroke. When other inherited or acquired disorders and conditions occur in conjunction with moyamoya disease, the syndrome is known as quasi-moyamoya disease. We report the case of a 34-year-old woman with a past history of SAPHO(Synovitis-Acne-Pustulosis-Hyperostosis-Osteomyelitis)syndrome, who presented with arm weakness and headache. Magnetic resonance angiography revealed severe terminal stenosis of the left ICA with moyamoya vessels, and she was diagnosed as moyamoya disease associated with SAPHO syndrome...
June 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28634110/pharmacological-rescue-of-ductal-cftr-rescue-pancreatic-and-salivary-glands-acinar-cells-and-tissue-function-in-mouse-models-of-autoimmune-diseases
#2
Mei Zeng, Mitchell Szymczak, Malini Ahuja, Changyu Zheng, Hongen Yin, William Swaim, John A Chiorini, Robert J Bridges, Shmuel Muallem
BACKGROUND & AIMS: Sjögren's syndrome and autoimmune pancreatitis (AIP) are disorders with decreased function of salivary, lacrimal glands, and the exocrine pancreas. NOD/ShiLTJ mice and mice transduced with the cytokine BMP6 develop Sjögren's syndrome and chronic pancreatitis and MRL/Mp mice are models of AIP. CFTR is a ductal Cl(-) channel essential for ductal fluid and HCO3(-) secretion. We used these models to ask: is CFTR expression altered in these diseases, does correction of CFTR correct gland function, and most notably, does correcting ductal function correct acinar function...
June 17, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28631311/the-il-10-stat3-axis-contributions-to-immune-tolerance-by-thymus-and-peripherally-derived-regulatory-t-cells
#3
REVIEW
Klaus G Schmetterer, Winfried F Pickl
The signal transducer and activator of transcription (STAT) proteins are important mediators for the integration of extrinsic signals provided by cytokines and hormones and thereby adapt cellular processes to their surroundings. In the past decade, the involvement of STAT3 in the regulation of T-cell responses has become a topic of increasing interest. STAT3 is activated in response to multiple cytokines, many of which have been shown to influence T-cell responses. Interestingly, many of these factors have been described with apparent opposing roles, such as the highly pro-inflammatory potency of IL-6 and the anti-inflammatory properties of IL-10, thus raising the possibility that STAT3 signaling may fulfill diverse roles in CD4(+) T-cells...
June 20, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28630417/ultrarapid-measurement-of-diagnostic-antibodies-by-magnetic-capture-of-immune-complexes
#4
Peter D Burbelo, Sreenivasulu Gunti, Jason M Keller, Caryn G Morse, Steven G Deeks, Michail S Lionakis, Amit Kapoor, Qingxue Li, Jeffrey I Cohen, Abner L Notkins, Ilias Alevizos
Rapid point-of-care, antibody-based testing is not currently available for the diagnosis of most autoimmune and infectious diseases. Here we report a simple, robust and ultrafast fluid-phase immunocapture method for clinical measurements of antibody levels. This method employs neodymium magnetic sticks that capture protein A/G-coated paramagnetic beads bound to antibody-luciferase-labeled antigen complexes. We demonstrate the ability to effectively measure specific antibody levels in serum samples from patients with varied infectious or autoimmune disorders, and in the case of Sjögren's syndrome directly in saliva, requiring about a minute per assay...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28630236/european-evidence-based-recommendations-for-diagnosis-and-treatment-of-childhood-onset-systemic-lupus-erythematosus-the-share-initiative
#5
Noortje Groot, Nienke de Graeff, Tadej Avcin, Brigitte Bader-Meunier, Paul Brogan, Pavla Dolezalova, Brian Feldman, Isabelle Kone-Paut, Pekka Lahdenne, Stephen D Marks, Liza McCann, Seza Ozen, Clarissa Pilkington, Angelo Ravelli, Annet van Royen-Kerkhof, Yosef Uziel, Bas Vastert, Nico Wulffraat, Sylvia Kamphuis, Michael W Beresford
Childhood-onset systemic lupus erythematosus (cSLE) is a rare, multisystem and potentially life-threatening autoimmune disorder with significant associated morbidity. Evidence-based guidelines are sparse and management is often based on clinical expertise. SHARE (Single Hub and Access point for paediatric Rheumatology in Europe) was launched to optimise and disseminate management regimens for children and young adults with rheumatic diseases like cSLE. Here, we provide evidence-based recommendations for diagnosis and treatment of cSLE...
June 19, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28628467/juvenile-and-adult-onset-systemic-lupus-erythematosus-a-comparative-study-in-a-large-cohort-from-the-spanish-society-of-rheumatology-lupus-registry-relesser
#6
Vicenç Torrente-Segarra, Tarek Carlos Salman Monte, Iñigo Rúa-Figueroa, Fernando Sánchez-Alonso, Francisco Javier López-Longo, María Galindo-Izquierdo, Jaime Calvo-Alén, Alejandro Olivé-Marqués, Jesús Ibañez-Ruán, Loreto Horcada, Ana Sánchez-Atrio, Carlos Montilla, Rafael Benito Melero González, Elvira Díez-Álvarez, Victor Martinez-Taboada, José Luis Andreu, Olaia Fernández-Berrizbeitia, José Ángel Hernández-Beriain, Marian Gantes, Blanca Hernández-Cruz, Ángela Pecondón-Español, Carlos Marras, Gema Bonilla, José M Pego-Reigosa
OBJECTIVES: We aimed to describe juvenile-onset systemic lupus erythematosus (jSLE) features and to establish its differences compared to adult-onset SLE (aSLE) from a large national database. METHODS: Data from patients (≥4 ACR criteria) included in Spanish Society of Rheumatology Lupus Registry (RELESSER) were analysed. Sociodemographic, clinical, serological, activity, treatment, cumulative damage, comorbidities and severity data were collected. Patients with disease onset <18 years were described and compared to those with disease onset ≥18 years...
June 12, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28628381/monoclonal-immunoglobulin-associated-proliferative-glomerulonephritis-characterized-by-organized-deposits-of-striated-ultra-substructures-a-case-report
#7
Shigeo Hara, Hiroyasu Tsukaguchi, Tastufumi Oka, Makiko Kusabe, Masayuki Mizui, Kensuke Joh
We herein report the case of a 64-year-old male who presented with progressive glomerulonephritis notable for organized and striated ultra-substructures. The patient was diagnosed with hypertension and proteinuria 3 years prior to admission and subsequently developed nephrotic syndrome and impairment of renal function. Laboratory tests did not reveal any evidence of infections or autoimmune diseases. Monoclonal gammopathy was not detected in serum or urine, although a small population of abnormal plasma cell clones was detected by flow cytometry...
June 19, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28627729/the-immune-deficiency-of-chromosome-22q11-2-deletion-syndrome
#8
Megan Morsheimer, Terri F Brown Whitehorn, Jennifer Heimall, Kathleen E Sullivan
The syndrome originally described by Dr. Angelo DiGeorge had immunodeficiency as a central component. When a 22q11.2 deletion was identified as the cause in the majority of patients with DiGeorge syndrome, the clinical features of 22q11.2 deletion syndrome became so expansive that the immunodeficiency became less prominent in our thinking about the syndrome. This review will focus on the immune system and the changes in our understanding over the past 50 years. Initially characterized as a pure defect in T cell development, we now appreciate that many of the clinical features related to the immunodeficiency are well downstream of the limitation imposed by a small thymus...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28627089/analysis-of-ptpn22-zfat-and-myo9b-polymorphisms-in-turner-syndrome-and-risk-of-autoimmune-disease
#9
E Villanueva-Ortega, B Ahedo, M A Fonseca-Sánchez, J Pérez-Durán, N Garibay-Nieto, M T Macías-Galavíz, Y Trujillo-Cabrera, E García-Latorre, G Queipo
Turner syndrome (TS) is one of the most common sexual chromosome abnormalities and is clearly associated with an increased risk of autoimmune diseases, particularly thyroid disease and coeliac disease (CD). Single-nucleotide polymorphism analyses have been shown to provide correlative evidence that specific genes are associated with autoimmune disease. Our aim was to study the functional polymorphic variants of PTPN22 and ZFAT in relation to thyroid disease and those of MYO9B in relation to CD. A cross-sectional comparative analysis was performed on Mexican mestizo patients with TS and age-matched healthy females...
June 18, 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28626447/autoimmune-thyroiditis-and-glomerulopathies
#10
REVIEW
Domenico Santoro, Carmela Vadalà, Rossella Siligato, Michele Buemi, Salvatore Benvenga
Autoimmune thyroiditis (AIT) is generally associated with hypothyroidism. It affects ~2% of the female population and 0.2% of the male population. The evidence of thyroid function- and thyroid autoantibody-unrelated microproteinuria in almost half of patients with AIT and sometimes heavy proteinuria as in the nephrotic syndrome point to a link of AIT with renal disease. The most common renal diseases observed in AIT are membranous nephropathy, membranoproliferative glomerulonephritis, minimal change disease, IgA nephropathy, focal segmental glomerulosclerosis, antineutrophil cytoplasmic autoantibody (ANCA) vasculitis, and amyloidosis...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28626376/successful-treatment-for-chronic-hepatitis-c-autoimmune-hepatitis-overlap-syndrome-due-to-daclatasvir-and-asunaprevir
#11
Ayumi Sugiura, Shuichi Wada, Hiromitsu Mori, Takefumi Kimura, Yoshiaki Matsuda, Naoki Tanaka, Eiji Tanaka, Kendo Kiyosawa
Persistent hepatitis C virus (HCV) infection may induce autoimmune diseases and chronic hepatitis C is sometimes accompanied by autoimmune hepatitis (AIH). However, we are worried about the treatment for chronic hepatitis C-AIH overlap syndrome because interferon-based antiviral therapies may enhance autoimmunity and immunosuppressive corticosteroid administration may promote viral replication. Here, we report a patient having chronic hepatitis C-AIH overlap syndrome treated with the direct-acting antivirals (DAA), daclatasvir and asunaprevir...
May 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28622456/elevated-ccl25-and-ccr9-expressing-t-helper-cells-in-salivary-glands-of-primary-sj%C3%A3-gren-s-syndrome-patients-potential-new-axis-in-lymphoid-neogenesis
#12
Sofie L M Blokland, Maarten R Hillen, Aike A Kruize, Stephan Meller, Bernhard Homey, Glennda M Smithson, Timothy R D J Radstake, Joel A G van Roon
Introduction T follicular helper (Tfh)-cells play a critical role in germinal center formation and B-cell activation, both hallmarks of primary Sjögren's syndrome (pSS). CCR9-expressing Th-cells have "Tfh-like" characteristics and are increased at mucosa-associated sites in several inflammatory conditions. Because of their unique characteristics and limited evaluation we investigated the local and systemic CCL25/CCR9-axis in pSS. Methods CCL25 protein and mRNA levels and CCR9+ Th-cells were assessed in labial salivary glands (LSG) of pSS and non-Sjögren's sicca (nSS) patients and their correlation with inflammatory and clinical parameters was evaluated...
June 16, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28620798/-inflammatory-skin-march-in-atopic-dermatitis-and-psoriasis
#13
REVIEW
Masutaka Furue, Takafumi Kadono
BACKGROUND: Comorbidities of cardiovascular diseases (CVDs), metabolic syndrome and autoimmune diseases with systemic inflammation are recent topics in medicine. Inflammatory skin diseases such as atopic dermatitis and psoriasis are an active source of diverse proinflammatory cytokines and chemokines, which are readily detectable in the circulation and are likely to be involved in developing comorbidities. EVIDENCE: Both atopic dermatitis and psoriasis are frequently comorbid with CVD, metabolic syndrome and autoimmune diseases, the consequence of which is called "inflammatory skin march", "psoriatic march" or "march of psoriasis"...
June 15, 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/28620656/oxidative-t-cell-modifications-in-lupus-and-sjogren-s-syndrome
#14
F M Strickland, T Mau, M O'Brien, A Ghosh, B C Richardson, R Yung
OBJECTIVES: Lupus flares are triggered by environmental agents that cause oxidative stress, but the mechanisms involved are unclear. The flares are characterized by oxidative modifications of proteins by 4-hydroxynonenals, malondialdehydes, carbonyls and nitration. These modifications have been proposed to induce and perpetuate lupus flares by "altered self" mechanisms. An epigenetically altered CD4+CD28+ T cell subset, caused at least in part by nitration of T cell signaling molecules, is found in patients with active lupus, and nitrated T cells are sufficient to cause lupus-like autoimmunity in animal models...
April 2017: Lupus (Los Angeles)
https://www.readbyqxmd.com/read/28620416/antiphospholipid-syndrome-multiple-manifestations-in-a-single-patient-a-high-suspicion-is-still-needed
#15
Uroosa Ibrahim, Shiksha Kedia, Gwenalyn Garcia, Jean Paul Atallah
Antiphospholipid Syndrome (APS) is an autoimmune disorder with clinical and laboratory features of vascular thrombosis, pregnancy loss, and persistent antiphospholipid antibodies (aPLs). The pathophysiology is thought to involve the activation of endothelial cells, monocytes, platelets, and complement by aPLs. Disease can range from asymptomatic to rapidly fatal catastrophic APS. We present a case of a 34-year-old male referred for pancytopenia and splenomegaly. On examination, he had decreased sensation and 4/5 power in the left upper extremity...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28619369/mechanisms-of-atherosclerosis-and-cardiovascular-disease-in-antiphospholipid-syndrome-and-systemic-lupus-erythematosus-new-therapeutic-approaches
#16
REVIEW
Chary Lopez-Pedrera, M Ángeles Aguirre-Zamorano, Carlos Pérez-Sánchez
Systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) are 2 highly related autoimmune-rheumatic diseases associated with an increased risk of developing cardiovascular (CV) diseases. Despite the great progresses made in understanding the pathological mechanisms leading to CV diseases in those pathologies, there is still the unmet need to improve long term prognosis. CV diseases in SLE and APS is thought to happen as the result of a complex interaction between traditional CV risk factors, immune deregulation and disease activity, including the synergic effect of cytokines, chemokines, adipokines, proteases, autoantibodies, adhesion receptors, oxidative stress and a plethora of intracellular signalling molecules...
June 12, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28619061/rituximab-versus-cyclophosphamide-for-the-treatment-of-connective-tissue-disease-associated-interstitial-lung-disease-recital-study-protocol-for-a-randomised-controlled-trial
#17
Peter Saunders, Vicky Tsipouri, Gregory J Keir, Deborah Ashby, Marcus D Flather, Helen Parfrey, Daphne Babalis, Elisabetta A Renzoni, Christopher P Denton, Athol U Wells, Toby M Maher
BACKGROUND: Interstitial lung disease (ILD) frequently complicates systemic autoimmune disorders resulting in considerable morbidity and mortality. The connective tissue diseases (CTDs) most frequently resulting in ILD include: systemic sclerosis, idiopathic inflammatory myositis (including dermatomyositis, polymyositis and anti-synthetase syndrome) and mixed connective tissue disease. Despite the development, over the last two decades, of a range of biological therapies which have resulted in significant improvements in the treatment of the systemic manifestations of CTD, the management of CTD-associated ILD has changed little...
June 15, 2017: Trials
https://www.readbyqxmd.com/read/28614198/the-almost-normal-liver-biopsy-presentation-clinical-associations-and-outcome
#18
Thomas W Czeczok, John S Van Arnam, Laura D Wood, Michael S Torbenson, Taofic Mounajjed
Liver biopsies obtained for abnormal liver enzymes or unexplained ascites occasionally appear histologically almost normal. The differential diagnosis for these cases is challenging because literature addressing this topic is lacking. We aimed to establish a differential diagnosis and determine clinical associations and outcomes for almost-normal liver biopsies. Ninety-seven histologically almost-normal liver biopsies were collected from 2 institutions. All cases lacked significant inflammation, fatty change, biliary tract disease, vascular disease, nodular regenerative hyperplasia, iron overload, inherited metabolic or storage disorder, viral hepatitis, or fibrosis...
June 13, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28612032/genetics-and-molecular-biology-of-epstein-barr-virus-encoded-bart-microrna-a-paradigm-for-viral-modulation-of-host-immune-response-genes-and-genome-stability
#19
REVIEW
David H Dreyfus
Epstein-Barr virus, a ubiquitous human herpesvirus, is associated through epidemiologic evidence with common autoimmune syndromes and cancers. However, specific genetic mechanisms of pathogenesis have been difficult to identify. In this review, the author summarizes evidence that recently discovered noncoding RNAs termed microRNA encoded by Epstein-Barr virus BARF (BamHI A right frame) termed BART (BamHI A right transcripts) are modulators of human immune response genes and genome stability in infected and bystander cells...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/28611948/van-wyk-grumbach-syndrome-with-kocher-debr%C3%A3-s%C3%A3-m%C3%A3-laigne-syndrome-case-report-of-a-rare-association
#20
Syed Mohd Razi, Abhinav Kumar Gupta, Deepak Chand Gupta, Manish Gutch, Keshav Kumar Gupta, Syeda Iqra Usman
BACKGROUND: Van Wyk-Grumbach syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudoprecocious puberty, and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precocious puberty. Kocher-Debré-Sémélaigne (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudohypertrophy, delayed contraction and relaxation of reflexes, and percussion myxedema...
February 2017: European Thyroid Journal
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