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Iskalni niz: "ključne besede" (diagnosis) .

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1.
Nevarnostni dejavniki, primarna preventiva, presejanje, odkrivanje rakov prebavil
Maja Primic-Žakelj, 1997

Ključne besede: Diagnosis, early
DiRROS - Objavljeno: 17.09.2019; Ogledov: 831; Prenosov: 202
.pdf Celotno besedilo (631,87 KB)

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Heritable risk for severe anaphylaxis associated with increased [alpha]-tryptase-encoding germline copy number at TPSAB1
Jonathan J. Lyons, Jack Chovanec, Michael P. O'Connell, Yihui Liu, Julij Šelb, Roberta Zanotti, Yun Bai, Jiwon Kim, Quang T. Le, Tom DiMaggio, Matija Rijavec, Peter Korošec, 2020

Povzetek: Background: An elevated basal serum tryptase level is associated with severe systemic anaphylaxis, most notably caused by Hymenoptera envenomation. Although clonal mast cell disease is the culprit in some individuals, it does not fully explain this clinical association. Objective: Our aim was to determine the prevalence and associated impact of tryptase genotypes on anaphylaxis in humans. Methods: Cohorts with systemic mastocytosis (SM) and venom as well as idiopathic anaphylaxis from referral centers in Italy, Slovenia, and the United States, underwent tryptase genotyping by droplet digital PCR. Associated anaphylaxis severity (Mueller scale) was subsequently examined. Healthy volunteers and controls with nonatopic disease were recruited and tryptase was genotyped by droplet digital PCR and in silico analysis of genome sequence, respectively. The effects of pooled and recombinant human tryptases, protease activated receptor 2 agonist and antagonist peptides, and a tryptase-neutralizing mAb on human umbilical vein endothelial cell permeability were assayed using a Transwell system. Results: Hereditary [alpha]-tryptasemia (H[alpha]T)--a genetic trait caused by increased [alpha]-tryptase-encoding Tryptase-[alpha]/[beta]1 (TPSAB1) copy number resulting in elevated BST level--was common in healthy individuals (5.6% [n = 7 of 125]) and controls with nonatopic disease (5.3% [n = 21 of 398]). H[alpha]T was associated with grade IV venom anaphylaxis (relative risk = 2.0; P < .05) and more prevalent in both idiopathic anaphylaxis (n = 8 of 47; [17%; P = .006]) and SM (n = 10 of 82 [12.2%; P = .03]) relative to the controls. Among patients with SM, concomitant H[alpha]T was associated with increased risk for systemic anaphylaxis (relative risk = 9.5; P = .007). In vitro, protease-activated receptor-2-dependent vascular permeability was induced by pooled mature tryptases but not [alpha]- or [beta]-tryptase homotetramers. Conclusions: Risk for severe anaphylaxis in humans is associated with inherited differences in [alpha]-tryptase-encoding copies at TPSAB1.
Ključne besede: mastocytosis, venoms, hypersensitivity, anaphylaxis - diagnosis, mast cells, idiopathic anaphylaxis, mast cell activation, hereditary alpha-tryptasemia
DiRROS - Objavljeno: 11.09.2020; Ogledov: 478; Prenosov: 64

4.
Lung cancer biomarker testing : perspective from Europe
Erik Thunnissen, Birgit Weynand, Dalma Udovicic-Gagula, Luka Brčić, Malgorzata Szolkowska, Paul Hofman, Silvana Smojver-Ježek, Sisko Anttila, Fiorella Calabrese, Izidor Kern, 2020

Povzetek: A questionnaire on biomarker testing previously used in central European countries was extended and distributed in Western and Central European countries to the pathologists participating at the Pulmonary Pathology Society meeting 26-28 June 2019 in Dubrovnik, Croatia. Each country was represented by one responder. For recent biomarkers the availability and reimbursement of diagnoses of molecular alterations in non-small cell lung carcinoma varies widely between different, also western European, countries. Reimbursement of such assessments varies widely between unavailability and payments by the health care system or even pharmaceutical companies. The support for testing from alternative sources, such as the pharmaceutical industry, is no doubt partly compensating for the lack of public health system support, but it is not a viable or long-term solution. Ideally, a structured access to testing and reimbursement should be the aim in order to provide patients with appropriate therapeutic options. As biomarker enabled therapies deliver a 50% better probability of outcome success, improved and unbiased reimbursement remains a major challenge for the future.
Ključne besede: lung neoplasms -- diagnosis -- therapy -- Europe, lung cancer, predictive testing
DiRROS - Objavljeno: 21.09.2020; Ogledov: 399; Prenosov: 152
URL Celotno besedilo (0,00 KB)

5.
Multicenter evaluation of the fully automated PCR-based Idylla EGFR Mutation Assay on formalin-fixed, paraffin-embedded Q1 tissue of human lung cancer
Solène M. Evrard, Estelle T. Clermont, Isabelle Rouquette, Samuel Murray, Sebastian Dintner, Yun-Chung Nam-Apostolopoulos, Beatriz Bellosillo, Mar V. Rodriguez, Ernest Nadal, Klaus H. Wiedorn, Mitja Rot, Izidor Kern, 2019

Povzetek: Before initiating treatment of advanced nonesmall-cell lung cancer with tyrosine kinase inhibitors (eg, erlotinib, gefitinib, osimertinib, and afatinib), which inhibit the catalytic activity of epidermal growth factor receptor (EGFR), clinical guidelines require determining the EGFR mutational status for activating (EGFR exons 18, 19, 20, or 21) and resistance (EGFR exon 20) mutations. The EGFR resistance mutation T790M should be monitored at cancer progression. The Idylla EGFR Mutation Assay, performed on the Idylla molecular diagnostics platform, is a fully automated (<2.5 hours turnaround time) sample-to-result molecular test to qualitatively detect 51 EGFR oncogene point mutations, deletions, or insertions. In a 15- center evaluation, Idylla results on 449 archived formalin-fixed, paraffin-embedded tissue sections, originating from nonesmall-cell lung cancer biopsies and resection specimens, were compared with data obtained earlier with routine reference methods, including next-generation sequencing, Sanger sequencing, pyrosequencing, mass spectrometry, and PCR-based assays. When results were discordant, a third method of analysis was performed, when possible, to confirm test results. After confirmation testing and excluding invalids/errors and discordant results by design, a concordance of 97.6% was obtained between Idylla and routine test results. Even with <10 mm2 of tissue area, a valid Idylla result was obtained in 98.9% of the cases. The Idylla EGFR Mutation Assay enables sensitive detection of most relevant EGFR mutations in concordance with current guidelines, with minimal molecular expertise or infrastructure.
Ključne besede: non-small cell lung carconima -- diagnosis -- genetics, ErbB receptors, sequence analysis, tyrosine kinase inhibitors, epidermal growth factor receptor
DiRROS - Objavljeno: 07.10.2020; Ogledov: 315; Prenosov: 104

6.
Recombinant glycoproteins resembling carbohydrate-specific IgE epitopes from plants, venoms and mites
Pia Gattinger, Irene Mittermann, Christian Lupinek, Gerhard Hofer, Walter Keller, Urška Bidovec, Peter Korošec, Christine Koessler, Natalija Novak, Rudolf Valenta, 2019

Povzetek: Background: N-linked glycans present in venoms, pollen and mites are recognized by IgE antibodies from >20% of allergic patients but have low or no allergenic activity. Objectives: To engineer recombinant glycoproteins resembling carbohydrate-specific IgE epitopes from venoms, pollen and mites which can discriminate carbohydrate-specific IgE from allergenic, peptide-specific IgE. Methods: One or two N-glycosylation sites were engineered into the N-terminus of the non-allergenic protein horse heart myoglobin (HHM) using synthetic gene technology. HHM 1 and HHM 2 containing one or two N-glycosylation sites were expressed in baculovirus-infected High-FiveTM insect cells and a non-glycosylated version (HHM 0) was obtained by mutating the glycosylation motif. Recombinant HHM proteins were analyzed regarding fold and aggregation by circular dichroism and gel filtration, respectively. IgE reactivity was assessed by ELISA, immunoblotting and quantitative ImmunoCAP measurements. IgE inhibition assays were performed to study cross-reactivity with venom, plant and mite-derived carbohydrate IgE epitopes. Results: HHM-glycovariants were expressed and purified from insect cells as monomeric and folded proteins. The HHM-glycovariants exhibited strictly carbohydrate-specific IgE reactivity, designed to quantify carbohydrate specific IgE and resembled IgE epitopes of pollen, venom and mite-derived carbohydrates. IgE-reactivity and inhibition experiments established a hierarchy of plant glcyoallergens (nPhl p 4 > nCyn d 1 > nPla a 2 > nJug r 2 > nCup a 1 > nCry j 1) indicating a hitherto unknown heterogeneity of carbohydrate IgE epitopes in plants which were completely represented by HHM 2. Conclusion: Defined recombinant HHM-glycoproteins resembling carbohydrate-specific IgE epitopes from plants, venoms and mites were engineered which made it possible to discriminate carbohydrate- from peptide-specific IgE reactivity.
Ključne besede: allergy and immunology, allergens, glycoproteins, molecular diagnostic technique, recombinant glycoproteins, molecular allergology, component-resolved diagnosis
DiRROS - Objavljeno: 16.10.2020; Ogledov: 310; Prenosov: 206
URL Celotno besedilo (0,00 KB)

7.
An EAACI position paper on the investigation of perioperative immediate hypersensitivity reactions
Lene Heise Garvey, Didier G. Ebo, Paul Michel Mertes, Pascale Dewachter, Tomaz Garcez, Peter Kopač, Jose Julio Laguna, Anca Chiriac, Ingrid Terreehorst, Susanna Voltolini, K Scherer, 2019

Povzetek: Perioperative immediate hypersensitivity reactions are rare. Subsequent allergy investigation is complicated by multiple simultaneous drug exposures, the use of drugs with potent effects and the many differential diagnoses to hypersensitivity in the perioperative setting. The approach to the investigation of these complex reactions is not standardized and it is becoming increasingly apparent that collaboration between experts in the field of allergy/immunology/dermatology and anaesthesiology is needed to provide the best possible care for these patients. The EAACI task force behind this position paper has therefore combined the expertise of allergists, immunologists and anaesthesiologists. The aims of this position paper are to provide recommendations for the investigation of immediate type perioperative hypersensitivity reactions and to provide practical information that can assist clinicians in planning and carrying out investigations.
Ključne besede: allergy and immunology -- diagnosis, drug hypersensitivity -- diagnosis, anaphylaxis, anesthesia, anesthetics, opioid analgesics, anti-bacterial agents, anti-inflammatory agents, non-steroidal opioids, antibiotics
DiRROS - Objavljeno: 16.10.2020; Ogledov: 346; Prenosov: 86

8.
Non-small cell lung cancer in countries of Central and Southeastern Europe : diagnostic procedures and treatment reimbursement surveyed by the Central European Cooperative Oncology Group
Ales Ryška, Rares Buiga, Albena Fakirova, Izidor Kern, Włodzimierz Olszewski, Lukas Plank, Sven Seiwerth, Erika Toth, Eri Zivka, Christiane Thallinger, Christoph Zielinski, Luka Brčić, 2018

Povzetek: This article analyzes the availability of different diagnostic procedures of non-small cell lung cancer (NSCLC) and the reimbursement landscape of drugs for NSCLC in countries of central and southeastern Europe (CEE). A survey was conducted by the Central European Cooperative Oncology Group. Results of the survey show that both availability and reimbursement of diagnoses of molecular alterations in NSCLC, the detection of which is essential for therapeutic decisions, varies widely between countries of CEE. Not only is "reflex" testing often substituted by analyses performed only "on demand," but reimbursement of such assessments varies widely between unavailability and payments by the health care system or even pharmaceutical companies. It was concluded that a structured access to testing and reimbursement should be the aim in order to provide patients with appropriate therapeutic options. Implications for Practice. This article provides an overview of the limitations in lung cancer treatment in countries of central and southeastern Europe, as well as the reimbursement status of various lung cancer treatment regimens in these countries, which directly impacts treatment options.
Ključne besede: Non-small cell lung carcinoma -- diagnosis -- economics -- Europe, molecular diagnostic techniques, precision medicine, Central Europe, Southeastern Europe, reimbursement
DiRROS - Objavljeno: 09.11.2020; Ogledov: 301; Prenosov: 83

9.
Trans-esophageal endobronchial ultrasound-guided needle aspiration (EUS-B-NA) : a road map for the chest physician
António Bugalho, Maria De Santis, A. Szlubowski, Aleš Rozman, R. Eberhardt, 2018

Povzetek: The endobronchial ultrasound (EBUS) scope has been increasingly used in the gastrointestinal tract (EUS-B). Scientific data proves its efficacy and safety to provide a complete lung cancer staging, when combined with EBUS-TBNA, and in the diagnosis of para-esophageal lesions. There are multiple barriers to start performing EUS-B but probably the most important ones are related to knowledge and training, so new operators should follow a structured training curriculum. This review aims to reflect the best current knowledge regarding EUS-B and provide a road map to assist those who are incorporating the technique into their clinical practice.
Ključne besede: diagnosis, lymph nodes, mediastinum, non-small-cell lung carcinoma -- diagnosis, fine-needle biopsy, fine needle aspiration
DiRROS - Objavljeno: 20.11.2020; Ogledov: 260; Prenosov: 123
URL Celotno besedilo (0,00 KB)

10.
Subspecies-specific sequence detection for differentiation of Mycobacterium abscessus complex
Alina Minias, Lidia Żukowska, Jakub Lach, Tomasz Jagielski, Dominik Strapagiel, Su-Young Kim, Won-Jung Koh, Heather Adam, Ruth Bittner, Sara Truden, Marija Žolnir-Dovč, Jarosław Dziadek, 2020

Povzetek: Mycobacterium abscessus complex (MABC) is a taxonomic group of rapidly growing, nontuberculous mycobacteria that are found as etiologic agents of various types of infections. They are considered as emerging human pathogens. MABC consists of 3 subspecies - M. abscessus subsp. bolletti, M. abscessus subsp. massiliense and M. abscessus subsp. abscessus. Here we present a novel method for subspecies differentiation of M. abscessus named Subspecies-Specific Sequence Detection (SSSD). This method is based on the presence of signature sequences present within the genomes of each subspecies of MABC. We tested this method against a virtual database of 1505 genome sequences of MABC. Further, we detected signature sequences of MABC in 45 microbiological samples through DNA hybridization. SSSD showed high levels of sensitivity and specificity for differentiation of subspecies of MABC, comparable to those obtained by rpoB sequence typing.
Ključne besede: Mycobacterium abscessus complex, nontuberculous mycobacteria, diagnosis
DiRROS - Objavljeno: 23.11.2020; Ogledov: 275; Prenosov: 148
URL Celotno besedilo (0,00 KB)

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