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https://www.readbyqxmd.com/read/29330757/-myelodysplastic-syndrome-acute-leukemia-and-stem-cell-transplantation
#1
REVIEW
M Schmalzing, M Aringer, M Bornhäuser, J Atta
Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic stem cell disorders. They are characterized by inefficient hematopoiesis leading to peripheral cytopenia of one or more lineages and a variable risk of transformation into acute myeloid leukemia. They may either arise de novo as well as following exposition to environmental toxins, previous radiotherapy or chemotherapy or in the context of autoinflammatory diseases and related therapy. Characteristic cytogenetic abnormalities, along with the numbers of hematopoietic lineages affected and bone marrow blasts, enable an assessment of the risk of leukemic transformation...
October 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/29326099/interleukin-18-diagnostically-distinguishes-and-pathogenically-promotes-human-and-murine-macrophage-activation-syndrome
#2
Eric S Weiss, Charlotte Girard-Guyonvarc'h, Dirk Holzinger, Adriana A de Jesus, Zeshan Tariq, Jennifer Picarsic, Eduardo J Schiffrin, Dirk Foell, Alexei A Grom, Sandra Ammann, Stephan Ehl, Tomoaki Hoshino, Raphaela Goldbach-Mansky, Cem Gabay, Scott W Canna
Hemophagocytic Lymphohistiocytosis (HLH) and Macrophage Activation Syndrome (MAS) are life-threatening hyperferritinemic systemic inflammatory disorders. Though profound cytotoxic impairment causes familial HLH (fHLH), the mechanisms driving non-fHLH and MAS are largely unknown. MAS occurs in patients with suspected rheumatic disease, but the mechanistic basis for its distinction is unclear. Recently, a syndrome of recurrent MAS with infantile enterocolitis caused by NLRC4 inflammasome hyperactivity highlighted the potential importance of Interleukin (IL)-18...
January 11, 2018: Blood
https://www.readbyqxmd.com/read/29317407/a20-haploinsufficiency-ha20-clinical-phenotypes-and-disease-course-of-patients-with-a-newly-recognised-nf-kb-mediated-autoinflammatory-disease
#3
Florence A Aeschlimann, Ezgi D Batu, Scott W Canna, Ellen Go, Ahmet Gül, Patrycja Hoffmann, Helen L Leavis, Seza Ozen, Daniella M Schwartz, Deborah L Stone, Annet van Royen-Kerkof, Daniel L Kastner, Ivona Aksentijevich, Ronald M Laxer
OBJECTIVES: The association between mutations in TNFAIP3, encoding the NF-kB regulatory protein A20, and a new autoinflammatory disease has recently been recognised. This study aims at describing the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20). METHODS: Data for all cases from the initial publication, and additional cases identified through collaborations since, were collected using standardised data collection forms. RESULTS: A total of 16 patients (13 female) from seven families with a genetic diagnosis of HA20 were included...
January 9, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29314707/comparison-of-early-versus-late-onset-familial-mediterranean-fever
#4
Nazife Sule Yasar Bilge, Ismail Sari, Dilek Solmaz, Soner Senel, Hakan Emmungil, Levent Kilic, Sibel Yilmaz Oner, Fatih Yildiz, Sedat Yilmaz, Duygu Ersozlu Bozkirli, Muge Aydin Tufan, Sema Yilmaz, Veli Yazisiz, Yavuz Pehlivan, Cemal Bes, Gozde Yildirim Cetin, Sukran Erten, Emel Gonullu, Fezan Sahin, Servet Akar, Kenan Aksu, Umut Kalyoncu, Haner Direskeneli, Eren Erken, Mehmet Sayarlioglu, Muhammed Cınar, Timucin Kasifoglu
AIM: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. METHODS: Early (≤ 20 years, Group 1) and late (> 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey...
January 5, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29305364/postsurgical-pyoderma-gangrenosum-after-an-autologous-stem-cell-transplantation-for-multiple-myeloma
#5
Maria Cecilia Borges Bittencourt, Marcelo Junqueira Atanazio, Erick Menezes Xavier, Silvia Figueiredo Costa
We report a man who underwent autologous stem cell transplantation (ASCT) for multiple myeloma. Two months after ASCT, he presented with necrotising cholecystitis due to gallbladder stones and was submitted to laparoscopic cholecystectomy. About a week later, he developed progressive skin ulcers at sites where trochanters had been inserted. Progressive enlargement and necrotic aspect of these ulcers took place despite debridement and large spectrum antibiotics. New ulcers developed at the site of enoxaparin injection at the right arm (pathergy phenomenon)...
January 5, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29296023/autoinflammatory-diseases-tnf-drives-cryopyrinopathies-in-mice
#6
Sarah Onuora
No abstract text is available yet for this article.
January 3, 2018: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/29291047/schnitzler-syndrome-a-rare-autoinflammatory-disease-complete-response-to-il-1-blockade
#7
Paola Faggioli, Antonio Tamburello, Lucia Roncoroni, Antonino Mazzone
No abstract text is available yet for this article.
September 15, 2017: Clinics and Practice
https://www.readbyqxmd.com/read/29287595/dealing-with-chronic-non-bacterial-osteomyelitis-a-practical-approach
#8
REVIEW
Andrea Taddio, Giovanna Ferrara, Antonella Insalaco, Manuela Pardeo, Massimo Gregori, Martina Finetti, Serena Pastore, Alberto Tommasini, Alessandro Ventura, Marco Gattorno
BACKGROUND: Chronic Non-Bacterial Osteomyelitis (CNO) is an inflammatory disorder that primarily affects children. Although underestimated, its incidence is rare. For these reasons, no diagnostic and no therapeutic guidelines exist. The manuscript wants to give some suggestions on how to deal with these patients in the every-day clinical practice. MAIN BODY: CNO is characterized by insidious onset of bone pain with local swelling. Systemic symptoms such as fever, skin involvement and arthritis may be sometimes present...
December 29, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29284595/molecular-genetic-investigation-clinical-features-and-response-to-treatment-in-21-patients-with-schnitzler-s-syndrome
#9
Dorota M Rowczenio, Shelly Pathak, Juan I Arostegui, Anna Mensa-Vilaro, Ebun Omoyinmi, Paul Brogan, Dan Lipsker, Thomas Scambler, Roger Owen, Hadija Trojer, Anna Baginska, Julian D Gillmore, Ashutosh D Wechalekar, Thirusha Lane, Rene Williams, Taryn Youngstein, Philip N Hawkins, Sinisa Savic, Helen J Lachmann
To date, the pathogenic mechanisms underlying Schnitzler's syndrome remain obscure, in particular the interplay between the monoclonal protein and increased IL-1beta production, although interest in the contribution of genetic factors has been fuelled by detection of somatic NLRP3 mosaicism in two patients with the variant-type Schnitzler's syndrome. At two specialist UK centres we have identified 21 patients, who fulfilled diagnostic criteria for Schnitzler's syndrome with urticarial rash, fever, arthralgia and bone pain; 47% reported weight loss, 40% fatigue and 21% lymphadenopathy...
December 28, 2017: Blood
https://www.readbyqxmd.com/read/29260755/-schnitzler-syndrome-a-review-of-literature-the-authors-observation-and-experience-with-the-interleukin-1-inhibitor-canakinumab
#10
S O Salugina, V R Gorodetsky, E S Fedorov, N E Lopatina, M D Evsikova
The paper reviews the publications dealing with Schnitzler syndrome, a rare autoinflammatory disease, and describes the authors' own clinical observation. It describes the first Russian experience in successfully using the interleukin-1 inhibitor canakinumab to treat this disease.
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/29259708/applications-of-reconstituted-inflammasomes-in-a-cell-free-system-to-drug-discovery-and-elucidation-of-the-pathogenesis-of-autoinflammatory-diseases
#11
REVIEW
Naoe Kaneko, Tomoyuki Iwasaki, Yuki Ito, Hiroyuki Takeda, Tatsuya Sawasaki, Shinnosuke Morikawa, Naoko Nakano, Mie Kurata, Junya Masumoto
The inflammasome, typically consisting of a Nod-like receptor, apoptosis-associated speck-like protein, and pro-caspase-1, has recently been identified as a huge intracellular complex, which plays a crucial role in interleukin-1 maturation or specific physiological functions. Two Nod-like receptors, such as nucleotide-binding oligomerization domains-containing protein (Nod)1 and Nod2, interact with the receptor-interacting protein serine-threonine kinase (RIPK)2 accompanied by Iκ-B kinase (IKK) complexes to construct the nodosome, leading to nuclear factor (NF)-κB activation...
2017: Inflammation and Regeneration
https://www.readbyqxmd.com/read/29250517/serum-interleukin-6-and-ccl11-eotaxin-may-be-suitable-biomarkers-for-the-diagnosis-of-chronic-nonbacterial-osteomyelitis
#12
Sigrun Ruth Hofmann, Fanny Böttger, Ursula Range, Christian Lück, Henner Morbach, Hermann Joseph Girschick, Meinolf Suttorp, Christian Michael Hedrich
Objectives: Chronic recurrent multifocal osteomyelitis (CRMO), the most severe form of chronic nonbacterial osteomyelitis (CNO), is an autoinflammatory bone disorder. In the absence of diagnostic criteria or biomarkers, CNO/CRMO remains a diagnosis of exclusion. The aim of this study was to identify biomarkers for diagnosing multifocal disease (CRMO). Study design: Sera from 71 pediatric CRMO patients, 11 patients with osteoarticular infections, 62 patients with juvenile idiopathic arthritis (JIA), 7 patients with para-infectious or reactive arthritis, and 43 patients with acute leukemia or lymphoma, as well as 59 healthy individuals were collected...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29249125/panniculitis-in-the-setting-of-dermato-rheumatologic-diseases
#13
Valentina Caputo, Franco Rongioletti
Panniculitides represent a heterogeneous group of inflammatory diseases that are traditionally considered one of the most difficult challenge for clinicians and pathologists. They may occur in a variety of dermato/rheumatologic diseases and are of particular relevance for clinicians dealing with such pathologies, including immune-mediated/autoimmune and autoinflammatory disorders. In fact, panniculitides can be the initial sign of presentation of a dermato/rheumatologic disease, thereby providing the physician with important clues to the correct diagnosis...
December 15, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29249124/histopathological-aspects-of-psoriasis-and-its-uncommon-variants
#14
Caterina Ferreli, Anna L Pinna, Luca Pilloni, Carlo F Tomasini, Franco Rongioletti
Psoriasis is a chronic complex multisystem, inflammatory, skin disorder that causes vasodilatation and hyperproliferation of keratinocytes, whose clinical expression includes a thickened, erythematous skin, often covered with silver grey scales. Psoriasis is a unique disease where both autoimmune and autoinflammatory responses coexist and the balance between the two components is essential in determining its clinical and histopathological presentation. Adaptive immune responses prevail in chronic plaque psoriasis while innate and autoinflammatory responses predominate in pustular psoriasis...
December 15, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29248003/the-role-of-the-interleukin-1-family-in-trained-immunity
#15
REVIEW
Simone J C F M Moorlag, Rutger Jan Röring, Leo A B Joosten, Mihai G Netea
Immunological memory was long considered a trait exclusive to cells of the adaptive immune system. However, recent studies have shown that after activation of the innate immune system, innate immune cells may undergo long-term functional reprogramming characterized by the ability to mount either a stronger or attenuated inflammatory response upon reactivation. This phenomenon, which has been termed trained immunity and is a de facto innate immune memory, is regulated by a network of integrated metabolic and epigenetic rewiring...
January 2018: Immunological Reviews
https://www.readbyqxmd.com/read/29247998/the-aim2-inflammasome-sensor-of-pathogens-and-cellular-perturbations
#16
REVIEW
Jérôme Lugrin, Fabio Martinon
Recognition of pathogens and altered self must be efficient and highly specific to orchestrate appropriate responses while limiting excessive inflammation and autoimmune reaction to normal self. AIM2 is a member of innate immune sensors that detects the presence of DNA, arguably the most conserved molecules in living organisms. However, AIM2 achieves specificity by detecting altered or mislocalized DNA molecules. It can detect damaged DNA, and the aberrant presence of DNA within the cytosolic compartment such as genomic DNA released into the cytosol upon loss of nuclear envelope integrity...
January 2018: Immunological Reviews
https://www.readbyqxmd.com/read/29247997/the-nlrc4-inflammasome
#17
REVIEW
Joseph A Duncan, Scott W Canna
15 years ago, the fundamental biology of an inflammatory signaling complex eventually dubbed "the inflammasome" began to unravel in chronologic parallel with the discovery that many inflammatory diseases were associated with its hyperactivity. Though the genetic origins of Familial Mediterranean Fever (FMF, caused my mutations in MEFV) were discovered first, it would take nearly two decades before the mechanistic connections to a PYRIN inflammasome were made. In the interim, the intensive study of the NLRP3 inflammasome, and the diseases associated with its hyperactivation, have largely dictated the paradigm of inflammasome composition and function...
January 2018: Immunological Reviews
https://www.readbyqxmd.com/read/29247492/new-evidence-of-connections-between-increased-o-glcnacylation-and-inflammasome-in-the-oral-mucosa-of-patients-with-oral-lichen-planus
#18
Thao Thi Do, Chatchai Phoomak, Voraratt Champattanachai, Atit Silsirivanit, Ponlatham Chaiyarit
Oral lichen planus (OLP) is considered a chronic inflammatory immune-mediated disease of the oral mucosa. Immunopathogenesis of OLP is thought to be associated with cell-mediated immune dysregulation. O-GlcNAcylation is a form of reversible glycosylation. It has been demonstrated that O-GlcNAcylation promoted NF-κB signaling. Activation of NF-кB can induce expression of NLRP3 inflammasome which is a large intracellular multiprotein complex involving an immune response. Dysregulated expression of the NLRP3 inflammasome was reported to be associated with autoinflammatory diseases...
December 16, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29247329/understanding-childhood-diabetes-mellitus-new-pathophysiological-aspects
#19
REVIEW
Juergen Grulich-Henn, Daniela Klose
Diabetes mellitus (DM) is not a single disease, but several pathophysiological conditions where synthesis, release, and/or action of insulin are disturbed. A progressive autoimmune/autoinflammatory destruction of islet cells is still considered the main pathophysiological event in the development of T1DM, but there is evidence that T1DM itself is a heterogeneous disease. More than 50 gene regions are closely associated with T1DM and a variety of epigenetic factors and metabolic patterns have been characterized, which may play a role in the development of T1DM...
December 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29239128/efficacy-of-anakinra-in-a-patient-with-systemic-amyloidosis-presented-with-amyloidoma
#20
Hulya Nalcacioglu, Ozan Ozkaya, Gurkan Genc, Suat Ayyildiz, Mehmet Kefeli, Murat Elli, Oguz Aydin, Meltem Ceyhan Bilgici
Amyloidosis is a heterogeneous group of disorders characterized by extracellular deposition of unique protein fibrils. The least common presentation of an amyloid deposition is as a discrete mass called amyloidoma or amyloid tumor. We report a case of a soft tissue amyloidoma in the abdomen of a 16-year-old girl who was diagnosed as having systemic amyloidosis. A girl aged 16 years was referred to our hospital with a pre-diagnosis of a retroperitoneal mass documented with abdominal ultrasonography and tomography...
December 13, 2017: International Journal of Rheumatic Diseases
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