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https://www.readbyqxmd.com/read/27815733/acute-rheumatic-fever-outbreak-in-southern-central-european-country
#1
Urška Kočevar, Nataša Toplak, Blaž Kosmač, Luka Kopač, Samo Vesel, Natalija Krajnc, Matjaž Homan, Rina Rus, Tadej Avčin
: A decline in the incidence of acute rheumatic fever (ARF) in developed countries over the past century can be attributed to the improved public hygiene and to widespread use of antibiotics. ARF seemed to be a rare disease in southern central European country, Slovenia, up to 2010 when we noticed an increase in the number of patients with ARF. In order to assess the current incidence of ARF, we performed a retrospective study of all patients with ARF treated at the University Children's Hospital Ljubljana from January 2008 until the end of December 2014...
November 4, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27658761/a-prospective-study-on-the-natural-history-of-patients-with-profound-combined-immunodeficiency-p-cid-an-interim-analysis
#2
Carsten Speckmann, Sam Doerken, Alessandro Aiuti, Michael H Albert, Waleed Al-Herz, Luis M Allende, Allessia Scarselli, Tadej Avcin, Ruy Perez-Becker, Caterina Cancrini, Andrew Cant, Silvia Di Cesare, Andrea Finocchi, Alain Fischer, H Bobby Gaspar, Sujal Ghosh, Andrew Gennery, Kimberly Gilmour, Luis I González-Granado, Monica Martinez-Gallo, Sophie Hambleton, Fabian Hauck, Manfred Hoenig, Despina Moshous, Benedicte Neven, Tim Niehues, Luigi Notarangelo, Capucine Picard, Nikolaus Rieber, Ansgar Schulz, Klaus Schwarz, Markus G Seidel, Pere Soler-Palacin, Polina Stepensky, Brigitte Strahm, Thomas Vraetz, Klaus Warnatz, Christine Winterhalter, Austen Worth, Sebastian Fuchs, Annette Uhlmann, Stephan Ehl
BACKGROUND: Absent T cell immunity resulting in life-threatening infections provides a clear rationale for hematopoetic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency (SCID). Combined immunodeficiencies (CID) and "atypical" SCID show reduced, not absent T-cell immunity. If associated with infections or autoimmunity, they represent profound CID (P-CID), for which outcome data are insufficient for unambiguous early transplant decisions. OBJECTIVES: We recruit non-transplanted P-CID patients aged 1-16 years to compare natural histories of severity-matched patients with/without subsequent transplantation and to determine whether immunological and/or clinical parameters may be predictive for outcome...
September 19, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27582173/autoimmune-and-inflammatory-manifestations-in-247-patients-with-primary-immunodeficiency-a-report-from-the-slovenian-national-registry
#3
Štefan Blazina, Gašper Markelj, Anja Koren Jeverica, Nataša Toplak, Nevenka Bratanič, Janez Jazbec, Peter Kopač, Maruša Debeljak, Alojz Ihan, Tadej Avčin
An abnormal regulation of immune responses leads to autoimmune and inflammatory manifestations in patients with primary immunodeficiencies (PIDs). The objective of our study was to evaluate the frequency of non-infectious and non-malignant manifestations in a large cohort of patients included in the Slovenian national PID registry and to assess the time of manifestation onset with respect to the time of PID diagnosis. Medical records of registered patients were reviewed. Data on autoimmunity, lymphoproliferation, autoinflammation, allergies, PID diagnosis, and underlying genetic defects were collected and analyzed...
August 31, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27484749/management-of-juvenile-idiopathic-arthritis-a-clinical-guide
#4
Štefan Blazina, Gašper Markelj, Mojca Zajc Avramovič, Nataša Toplak, Tadej Avčin
Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease of childhood. The outcome in patients with JIA has markedly improved with the advent of biologic drugs. Although early aggressive therapy with biologics seems to be very effective, this approach leads to overtreatment in patients who would respond to classic disease-modifying anti-rheumatic drugs. Therefore, methotrexate remains first-line long-term therapy for most children with polyarticular JIA. Tumor necrosis factor-α inhibitors have shown tremendous benefit in children with refractory non-systemic JIA...
December 2016: Paediatric Drugs
https://www.readbyqxmd.com/read/27364639/distribution-of-mefv-gene-mutations-and-r202q-polymorphism-in-the-serbian-population-and-their-influence-on-oxidative-stress-and-clinical-manifestations-of-inflammation
#5
Jelena Milenković, Jelena Vojinović, Maruša Debeljak, Nataša Toplak, Dragana Lazarević, Tadej Avčin, Tatjana Jevtović-Stoimenov, Dušica Pavlović, Vladmila Bojanić, Maja Milojković, Gordana Kocić, Andrej Veljković
BACKGROUND: The Mediterranean fever (MEFV) gene codes for protein pyrin, one of the regulators of inflammasome activity in innate immune cells. Mutations in this gene are considered the primary cause of Familial Mediterranean fever, but are also found in other monogenic and multifactorial autoinflammatory diseases. The aim of the study was to determine if healthy carriers of MEFV gene mutations and R202Q polymorphism have clinical manifestations of inflammation and impaired oxidative stress parameters...
2016: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/27253662/deficiency-in-mucosa-associated-lymphoid-tissue-lymphoma-translocation-1-malt1-a-novel-cause-of-ipex-like-syndrome
#6
Fabienne Charbit-Henrion, Anja Koren Jeverica, Bernadette Bègue, Gasper Markelj, Marianna Parlato, Simona Lucija Avčin, Isabelle Callebaut, Marc Bras, Mélanie Parisot, Janez Jazbec, Matjaz Homan, Alojz Ihan, Frédéric Rieux-Laucat, Marie-Claude Stolzenberg, Frank M Ruemmele, Tadej Avčin, Nadine Cerf-Bensussan
OBJECTIVE: Early onset inflammatory bowel diseases can result from a wide spectrum of rare Mendelian disorders. Early molecular diagnosis is crucial to define treatment and improve life expectancy. Herein we aimed at defining the mechanism of an IPEX-like disease (Immunodeficiency-Polyendrocrinopathy and Enteropathy-X-linked) combined with a severe immunodeficiency in two siblings born from distantly related parents. METHODS: Whole exome sequencing was performed on blood-extracted genomic DNA from the two affected children and their parents on the genomic platform of Institut IMAGINE...
June 2, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27216430/the-role-of-stat-signaling-pathways-in-the-pathogenesis-of-systemic-lupus-erythematosus
#7
Aleš Goropevšek, Marija Holcar, Tadej Avčin
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder with a broad spectrum of clinical presentations and association with multiple immunological abnormalities. Recent research of the Janus kinase (JAK)-signal transducer and activator of transcription (STAT) signaling pathway-revealed aberrant STAT signaling in inflammatory conditions and autoimmune diseases including SLE. STAT proteins are major components in interferon (IFN)-dependent gene expression and are responsible for signal transduction of over 50 cytokines, hormones, and growth factors regulating key cellular processes such as survival, proliferation, and differentiation...
May 23, 2016: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/26932344/two-year-efficacy-and-safety-of-etanercept-in-pediatric-patients-with-extended-oligoarthritis-enthesitis-related-arthritis-or-psoriatic-arthritis
#8
Tamas Constantin, Ivan Foeldvari, Jelena Vojinovic, Gerd Horneff, Ruben Burgos-Vargas, Irina Nikishina, Jonathan D Akikusa, Tadej Avcin, Jeffrey Chaitow, Elena Koskova, Bernard R Lauwerys, Inmaculada Calvo Penades, Berit Flato, Maria Luz Gamir, Hans-Iko Huppertz, Juan Jose Jaller Raad, Katerina Jarosova, Jordi Anton, Marie Macku, William J Otero Escalante, Lidia Rutkowska-Sak, Ralf Trauzeddel, Patricia J Velez-Sanchez, Carine Wouters, Joseph Wajdula, Chuanbo Zang, Jack Bukowski, Deborah Woodworth, Bonnie Vlahos, Alberto Martini, Nicolino Ruperto
OBJECTIVE: The main objective was to determine the 2-year clinical benefit and safety of etanercept (ETN) in children with the juvenile idiopathic arthritis (JIA) categories of extended oligoarthritis (eoJIA), enthesitis-related arthritis (ERA), or psoriatic arthritis (PsA). METHODS: CLIPPER was a 96-week, phase IIIb, open-label, multicenter study. Patients with eoJIA, ERA, or PsA received ETN 0.8 mg/kg once weekly (50 mg max) for up to 96 weeks. The proportions of patients reaching the JIA American College of Rheumatology (ACR) 30/50/70/90/100 and inactive disease responses at Week 96 were calculated...
April 2016: Journal of Rheumatology
https://www.readbyqxmd.com/read/26865703/2016-classification-criteria-for-macrophage-activation-syndrome-complicating-systemic-juvenile-idiopathic-arthritis-a-european-league-against-rheumatism-american-college-of-rheumatology-paediatric-rheumatology-international-trials-organisation-collaborative
#9
Angelo Ravelli, Francesca Minoia, Sergio Davì, AnnaCarin Horne, Francesca Bovis, Angela Pistorio, Maurizio Aricò, Tadej Avcin, Edward M Behrens, Fabrizio De Benedetti, Lisa Filipovic, Alexei A Grom, Jan-Inge Henter, Norman T Ilowite, Michael B Jordan, Raju Khubchandani, Toshiyuki Kitoh, Kai Lehmberg, Daniel J Lovell, Paivi Miettunen, Kim E Nichols, Seza Ozen, Jana Pachlopnik Schmid, Athimalaipet V Ramanan, Ricardo Russo, Rayfel Schneider, Gary Sterba, Yosef Uziel, Carol Wallace, Carine Wouters, Nico Wulffraat, Erkan Demirkaya, Hermine I Brunner, Alberto Martini, Nicolino Ruperto, Randy Q Cron
To develop criteria for the classification of macrophage activation syndrome (MAS) in patients with systemic juvenile idiopathic arthritis (JIA). A multistep process, based on a combination of expert consensus and analysis of real patient data, was conducted. A panel of 28 experts was first asked to classify 428 patient profiles as having or not having MAS, based on clinical and laboratory features at the time of disease onset. The 428 profiles comprised 161 patients with systemic JIA-associated MAS and 267 patients with a condition that could potentially be confused with MAS (active systemic JIA without evidence of MAS, or systemic infection)...
March 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/26848401/expert-consensus-on-dynamics-of-laboratory-tests-for-diagnosis-of-macrophage-activation-syndrome-complicating-systemic-juvenile-idiopathic-arthritis
#10
Angelo Ravelli, Francesca Minoia, Sergio Davì, AnnaCarin Horne, Francesca Bovis, Angela Pistorio, Maurizio Aricò, Tadej Avcin, Edward M Behrens, Fabrizio De Benedetti, Alexandra Filipovic, Alexei A Grom, Jan-Inge Henter, Norman T Ilowite, Michael B Jordan, Raju Khubchandani, Toshiyuki Kitoh, Kai Lehmberg, Daniel J Lovell, Paivi Miettunen, Kim E Nichols, Seza Ozen, Jana Pachlopnik Schmid, Athimalaipet V Ramanan, Ricardo Russo, Rayfel Schneider, Gary Sterba, Yosef Uziel, Carol Wallace, Carine Wouters, Nico Wulffraat, Erkan Demirkaya, Hermine I Brunner, Alberto Martini, Nicolino Ruperto, Randy Q Cron
OBJECTIVE: To identify which laboratory tests that change over time are most valuable for the timely diagnosis of macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (sJIA). METHODS: A multistep process, based on a combination of expert consensus and analysis of real patient data, was conducted. A panel of experts was first asked to evaluate 115 profiles of patients with MAS, which included the values of laboratory tests at the pre-MAS visit and at MAS onset, and the change in values between the two time points...
2016: RMD Open
https://www.readbyqxmd.com/read/26645190/prednisone-versus-prednisone-plus-ciclosporin-versus-prednisone-plus-methotrexate-in-new-onset-juvenile-dermatomyositis-a-randomised-trial
#11
RANDOMIZED CONTROLLED TRIAL
Nicolino Ruperto, Angela Pistorio, Sheila Oliveira, Francesco Zulian, Ruben Cuttica, Angelo Ravelli, Michel Fischbach, Bo Magnusson, Gary Sterba, Tadej Avcin, Karine Brochard, Fabrizia Corona, Frank Dressler, Valeria Gerloni, Maria T Apaz, Claudia Bracaglia, Adriana Cespedes-Cruz, Rolando Cimaz, Gerard Couillault, Rik Joos, Pierre Quartier, Ricardo Russo, Marc Tardieu, Nico Wulffraat, Blanca Bica, Pavla Dolezalova, Virginia Ferriani, Berit Flato, Ana G Bernard-Medina, Troels Herlin, Maria Trachana, Antonella Meini, Emma Allain-Launay, Clarissa Pilkington, Veronika Vargova, Carine Wouters, Simona Angioloni, Alberto Martini
BACKGROUND: Most data for treatment of dermatomyositis and juvenile dermatomyositis are from anecdotal, non-randomised case series. We aimed to compare, in a randomised trial, the efficacy and safety of prednisone alone with that of prednisone plus either methotrexate or ciclosporin in children with new-onset juvenile dermatomyositis. METHODS: We did a randomised trial at 54 centres in 22 countries. We enrolled patients aged 18 years or younger with new-onset juvenile dermatomyositis who had received no previous treatment and did not have cutaneous or gastrointestinal ulceration...
February 13, 2016: Lancet
https://www.readbyqxmd.com/read/26554821/autoimmune-hepatitis-as-a-presenting-manifestation-of-mixed-connective-tissue-disease-in-a-child-case-report-and-review-of-the-literature
#12
REVIEW
Katarina Sedej, Nataša Toplak, Marina Praprotnik, Boštjan Luzar, Jernej Brecelj, Tadej Avčin
BACKGROUND: Liver disease is rare in the course of mixed connective tissue disease. Most commonly liver steatosis or elevated liver function tests are reported and only a few cases of mixed connective tissue disease associated with autoimmune hepatitis were described. CASE PRESENTATION: We report a case of an 11-year old boy with hepatitis on admission to the hospital and symptoms and signs of mixed connective tissue disease. Autoimmune hepatitis has been confirmed by liver biopsy...
2015: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/26525134/age-related-differences-in-percentages-of-regulatory-and-effector-t-lymphocytes-and-their-subsets-in-healthy-individuals-and-characteristic-stat1-stat5-signalling-response-in-helper-t-lymphocytes
#13
Marija Holcar, Aleš Goropevšek, Alojz Ihan, Tadej Avčin
The dynamic process of the development of the immune system can in itself result in age-related immune malfunctions. In this study, we analysed lymphocyte subsets in the peripheral blood of 60 healthy donors, divided into groups of children, adolescents, and adults, focusing on effector (Teff) and regulatory (Treg) T lymphocytes and STAT1/STAT5 signalling response in helper T lymphocytes (Th) in adults, using flow cytometry. Our results demonstrate a decrease in the percentage of total Tregs and an increase in the percentage of total Teffs with age and a consequential immense increase in the Teff/Treg ratio...
2015: Journal of Immunology Research
https://www.readbyqxmd.com/read/26314788/2016-classification-criteria-for-macrophage-activation-syndrome-complicating-systemic-juvenile-idiopathic-arthritis-a-european-league-against-rheumatism-american-college-of-rheumatology-paediatric-rheumatology-international-trials-organisation-collaborative
#14
COMPARATIVE STUDY
Angelo Ravelli, Francesca Minoia, Sergio Davì, AnnaCarin Horne, Francesca Bovis, Angela Pistorio, Maurizio Aricò, Tadej Avcin, Edward M Behrens, Fabrizio De Benedetti, Lisa Filipovic, Alexei A Grom, Jan-Inge Henter, Norman T Ilowite, Michael B Jordan, Raju Khubchandani, Toshiyuki Kitoh, Kai Lehmberg, Daniel J Lovell, Paivi Miettunen, Kim E Nichols, Seza Ozen, Jana Pachlopnik Schmid, Athimalaipet V Ramanan, Ricardo Russo, Rayfel Schneider, Gary Sterba, Yosef Uziel, Carol Wallace, Carine Wouters, Nico Wulffraat, Erkan Demirkaya, Hermine I Brunner, Alberto Martini, Nicolino Ruperto, Randy Q Cron
OBJECTIVE: To develop criteria for the classification of macrophage activation syndrome (MAS) in patients with systemic juvenile idiopathic arthritis (JIA). METHODS: A multistep process, based on a combination of expert consensus and analysis of real patient data, was conducted. A panel of 28 experts was first asked to classify 428 patient profiles as having or not having MAS, based on clinical and laboratory features at the time of disease onset. The 428 profiles comprised 161 patients with systemic JIA-associated MAS and 267 patients with a condition that could potentially be confused with MAS (active systemic JIA without evidence of MAS, or systemic infection)...
March 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/25854492/pediatric-antiphospholipid-syndrome
#15
REVIEW
Cassyanne L Aguiar, Arzu Soybilgic, Tadej Avcin, Barry L Myones
Antiphospholipid syndrome (APS) is a multisystem autoimmune condition characterized by vascular thromboses associated with persistently positive antiphospholipid antibodies. There is currently a paucity of data (incidence, prevalence, thrombosis risk, and effective treatment) in pediatric APS. The purpose of this report is to review the current literature on APS in children and neonates, identify the gaps in current knowledge, and suggest avenues for studies to fill those gaps.
April 2015: Current Rheumatology Reports
https://www.readbyqxmd.com/read/25821352/clinical-features-and-genetic-background-of-the-periodic-fever-syndrome-with-aphthous-stomatitis-pharyngitis-and-adenitis-a-single-center-longitudinal-study-of-81-patients
#16
Daša Perko, Maruša Debeljak, Nataša Toplak, Tadej Avčin
PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis. Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the University Children's Hospital, Ljubljana, were collected from 2008 to 2014. All four genes were PCR amplified and directly sequenced...
2015: Mediators of Inflammation
https://www.readbyqxmd.com/read/25077692/clinical-features-treatment-and-outcome-of-macrophage-activation-syndrome-complicating-systemic-juvenile-idiopathic-arthritis-a-multinational-multicenter-study-of-362-patients
#17
MULTICENTER STUDY
Francesca Minoia, Sergio Davì, AnnaCarin Horne, Erkan Demirkaya, Francesca Bovis, Caifeng Li, Kai Lehmberg, Sheila Weitzman, Antonella Insalaco, Carine Wouters, Susan Shenoi, Graciela Espada, Seza Ozen, Jordi Anton, Raju Khubchandani, Ricardo Russo, Priyankar Pal, Ozgur Kasapcopur, Paivi Miettunen, Despoina Maritsi, Rosa Merino, Bita Shakoory, Maria Alessio, Vyacheslav Chasnyk, Helga Sanner, Yi-Jin Gao, Zeng Huasong, Toshiyuki Kitoh, Tadej Avcin, Michel Fischbach, Michael Frosch, Alexei Grom, Adam Huber, Marija Jelusic, Sujata Sawhney, Yosef Uziel, Nicolino Ruperto, Alberto Martini, Randy Q Cron, Angelo Ravelli
OBJECTIVE: To describe the clinical, laboratory, and histopathologic features, current treatment, and outcome of patients with macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (JIA). METHODS: In this multinational, multicenter study, pediatric rheumatologists and hemato-oncologists entered patient data collected retrospectively into a web-based database. RESULTS: A total of 362 patients, 22% of whom had MAS at the onset of systemic JIA, were included in the study by 95 investigators from 33 countries...
November 2014: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/24891844/clinical-features-of-childhood-granulomatosis-with-polyangiitis-wegener-s-granulomatosis
#18
COMPARATIVE STUDY
Marek Bohm, Maria Isabel Gonzalez Fernandez, Seza Ozen, Angela Pistorio, Pavla Dolezalova, Paul Brogan, Giancarlo Barbano, Claudia Sengler, Marisa Klein-Gitelman, Pierre Quartier, Anders Fasth, Troels Herlin, Maria Teresa R A Terreri, Susan Nielsen, Marion A J van Rossum, Tadej Avcin, Esteban Rodolfo Castell, Ivan Foeldvari, Dirk Foell, Anuela Kondi, Isabelle Koné-Paut, Rolf-Michael Kuester, Hartmut Michels, Nico Wulffraat, Halima Ben Amer, Clara Malattia, Alberto Martini, Nicolino Ruperto
BACKGROUND: Granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis (WG), belongs to the group of ANCA-associated necrotizing vasculitides. This study describes the clinical picture of the disease in a large cohort of GPA paediatric patients. Children with age at diagnosis ≤ 18 years, fulfilling the EULAR/PRINTO/PRES GPA/WG classification criteria were extracted from the PRINTO vasculitis database. The clinical signs/symptoms and laboratory features were analysed before or at the time of diagnosis and at least 3 months thereafter and compared with other paediatric and adult case series (>50 patients) derived from the literature...
2014: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/24798014/perforin-and-human-diseases
#19
REVIEW
Omar Naneh, Tadej Avčin, Apolonija Bedina Zavec
Natural killer (NK) cells and cytotoxic T lymphocytes (CTL) use a highly toxic pore-forming protein perforin (PFN) to destroy cells infected with intracellular pathogens and cells with pre-cancerous transformations. However, mutations of PFN and defects in its expression can cause an abnormal function of the immune system and difficulties in elimination of altered cells. As discussed in this chapter, deficiency of PFN due to the mutations of its gene, PFN1, can be associated with malignancies and severe immune disorders such as familial hemophagocytic lymphohistiocytosis (FHL) and macrophage activation syndrome...
2014: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/23995592/two-episodes-of-systemic-capillary-leak-syndrome-in-an-8-year-old-boy-following-influenza-a-virus-infection
#20
Tina Perme, Marko Pokorn, Gašper Markelj, Tadej Avčin, Tadej Battelino, Tina Uršič, Ivan Vidmar, Štefan Grosek
Systemic capillary leak syndrome is a rare condition, characterized by hypotension, edema, hemoconcentration and hypoalbuminemia. We describe 2 episodes of systemic capillary leak syndrome, following influenza A virus infection, occurring during 2 subsequent influenza seasons, in an 8-year-old boy.
February 2014: Pediatric Infectious Disease Journal
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