Die menschlichen Körperzellen besitzen eine ausgeklügelte Alarmanlage, das Inflammasom. Seine zentrale Komponente ist das sogenannte ASC-Molekül. Bei der Attacke eines Krankheitserregers verbünden sich viele dieser Eiweiß-Verbindungen zu einem großen Komplex, dem ASC-Speck. Durch dessen Aktivität häufen sich in der Zelle massenhaft Botenstoffe an, mit denen sie das Immunsystem aktiviert. Zudem bilden sich in der Zellmembran zahlreiche Poren, durch die diese Warnmoleküle nach außen gelangen und ihre Aufgabe erfüllen können. Diese Löcher führen letztlich zum Untergang der Zelle: «Irgendwann explodiert sie geradezu und entleert ihren kompletten Inhalt ins Gewebe», erklärt Prof. Dr. Bernardo Franklin vom Universitätsklinikum Bonn. «Die nun schlagartig ausgeschütteten Botenstoffe wirken dann wie ein letzter großer Hilfeschrei: Das Immunsystem wird dadurch zu einer starken Entzündungsreaktion verKompass Autoimmun 2022;4:156–159 DOI: 10.1159/000526006
{"title":"Spektrum Autoimmun – wissenswert, kompakt, anregend","authors":"","doi":"10.1159/000526006","DOIUrl":"https://doi.org/10.1159/000526006","url":null,"abstract":"Die menschlichen Körperzellen besitzen eine ausgeklügelte Alarmanlage, das Inflammasom. Seine zentrale Komponente ist das sogenannte ASC-Molekül. Bei der Attacke eines Krankheitserregers verbünden sich viele dieser Eiweiß-Verbindungen zu einem großen Komplex, dem ASC-Speck. Durch dessen Aktivität häufen sich in der Zelle massenhaft Botenstoffe an, mit denen sie das Immunsystem aktiviert. Zudem bilden sich in der Zellmembran zahlreiche Poren, durch die diese Warnmoleküle nach außen gelangen und ihre Aufgabe erfüllen können. Diese Löcher führen letztlich zum Untergang der Zelle: «Irgendwann explodiert sie geradezu und entleert ihren kompletten Inhalt ins Gewebe», erklärt Prof. Dr. Bernardo Franklin vom Universitätsklinikum Bonn. «Die nun schlagartig ausgeschütteten Botenstoffe wirken dann wie ein letzter großer Hilfeschrei: Das Immunsystem wird dadurch zu einer starken Entzündungsreaktion verKompass Autoimmun 2022;4:156–159 DOI: 10.1159/000526006","PeriodicalId":17887,"journal":{"name":"Kompass Autoimmun","volume":"13 1","pages":"156 - 159"},"PeriodicalIF":0.0,"publicationDate":"2022-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89136467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Xinhe Zhang, Xin Jin, Lin Guan, Xuyong Lin, Xuedan Li, Yiling Li
Die IgG4-assoziierte Erkrankung ist eine immunvermittelte chronische, systemische und autoinflammatorische Erkrankung, die verschiedene Organe im gesamten Körper betreffen kann. Am häufigsten sind die Bauchspeicheldrüse und die Gallenwege betroffen. Aufgrund der vielfältigen klinischen Erscheinungsformen der Krankheit sind viele Organe betroffen. Daher kann es leicht zu Fehldiagnosen kommen oder sie kann übersehen werden. Der Verdauungstrakt ist ein selten betroffenes System, und die meisten IgG4-assoziierten Magenerkrankungen werden mittels Endoskopie als Tumoren diagnostiziert. In diesem Artikel wird über zwei spezielle Fälle von IgG4-assoziierten Erkrankungen mit atrophischer Gastritis und Darmpolypen berichtet, um eine empirischere und theoretische Grundlage für die klinische Diagnose und Therapie zu schaffen.
{"title":"IgG4-assoziierte Erkrankung mit gastrointestinaler Beteiligung: Fallberichte und Literaturübersicht","authors":"Xinhe Zhang, Xin Jin, Lin Guan, Xuyong Lin, Xuedan Li, Yiling Li","doi":"10.1159/000525461","DOIUrl":"https://doi.org/10.1159/000525461","url":null,"abstract":"Die IgG4-assoziierte Erkrankung ist eine immunvermittelte chronische, systemische und autoinflammatorische Erkrankung, die verschiedene Organe im gesamten Körper betreffen kann. Am häufigsten sind die Bauchspeicheldrüse und die Gallenwege betroffen. Aufgrund der vielfältigen klinischen Erscheinungsformen der Krankheit sind viele Organe betroffen. Daher kann es leicht zu Fehldiagnosen kommen oder sie kann übersehen werden. Der Verdauungstrakt ist ein selten betroffenes System, und die meisten IgG4-assoziierten Magenerkrankungen werden mittels Endoskopie als Tumoren diagnostiziert. In diesem Artikel wird über zwei spezielle Fälle von IgG4-assoziierten Erkrankungen mit atrophischer Gastritis und Darmpolypen berichtet, um eine empirischere und theoretische Grundlage für die klinische Diagnose und Therapie zu schaffen.","PeriodicalId":17887,"journal":{"name":"Kompass Autoimmun","volume":"47 1","pages":"149 - 155"},"PeriodicalIF":0.0,"publicationDate":"2022-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88213643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Behçet’s disease is a multi-organ inflammatory disorder with systemic vasculitis of unknown etiology. Ocular lesions occur in about 70% of patients with Behçet’s disease, and it is more frequent and severe in men. The frequency of ocular inflammatory attacks has been used as a main outcome measure to assess the efficacy of therapy on uveoretinitis in patients with Behçet’s disease. The ocular Behçet’s disease research group of Japan have recently proposed a new scoring system, Behçet’s disease ocular attack score 24 (BOS24), to assess the disease activity of ocular Behçet’s disease. This review highlights the efficacy and application of the BOS24 scoring system in clinical practice for patients with ocular Behçet’s disease. In addition, a new semi-quantitative scoring system to evaluate the degree of retinal vascular leakage on fluorescein angiography reported by our group is described.
{"title":"Scoring-Systeme zur Bewertung der Krankheitsaktivität bei Morbus-Behçet-Chorioretinitis und ihre Anwendung","authors":"Sophie-Christin Ernst","doi":"10.1159/000525995","DOIUrl":"https://doi.org/10.1159/000525995","url":null,"abstract":"Behçet’s disease is a multi-organ inflammatory disorder with systemic vasculitis of unknown etiology. Ocular lesions occur in about 70% of patients with Behçet’s disease, and it is more frequent and severe in men. The frequency of ocular inflammatory attacks has been used as a main outcome measure to assess the efficacy of therapy on uveoretinitis in patients with Behçet’s disease. The ocular Behçet’s disease research group of Japan have recently proposed a new scoring system, Behçet’s disease ocular attack score 24 (BOS24), to assess the disease activity of ocular Behçet’s disease. This review highlights the efficacy and application of the BOS24 scoring system in clinical practice for patients with ocular Behçet’s disease. In addition, a new semi-quantitative scoring system to evaluate the degree of retinal vascular leakage on fluorescein angiography reported by our group is described.","PeriodicalId":17887,"journal":{"name":"Kompass Autoimmun","volume":"8 1","pages":"124 - 126"},"PeriodicalIF":0.0,"publicationDate":"2022-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79269757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
information@karger.com www.karger.com (raxSpA bzw. AS) unterteilt [3]. Da es sich bei beiden grundsätzlich um ein einziges Krankheitsbild handelt, unterscheiden sich nr-axSpA und AS nur hinsichtlich der Krankheitsdauer und der zu einem bestimmten Zeitpunkt nachweisbaren strukturellen Veränderungen [3]. Bei der r-axSpA sind die diagnoseweisenden strukturellen Veränderungen in den Sakroiliakalgelenken und an der Wirbelsäule ersichtlich [3, 5]. Führendes Hauptsymptom bei axSpA sind chronische – d.h. seit mehr als 12 Wochen bestehende – Rückenschmerzen, die bei 75% der Patient*innen entzündlich bedingt sind [3]. Die Schmerzen können prinzipiell an der gesamten Wirbelsäule auftreten. Vorzugsweise sind aber die sakroiliakalen vor den lumbalen Strukturen und untere thorakale vor den zervikalen und oberen thorakalen Strukturen betroffen. Häufigste periphere Manifestationen der AS sind Ar thritis und Enthesitis, die bei 30–50% der Patient*innen mit axSpA auftreten [6].
{"title":"Tofacitinib als orale Therapieoption bei aktiver AS","authors":"","doi":"10.1159/000526013","DOIUrl":"https://doi.org/10.1159/000526013","url":null,"abstract":"information@karger.com www.karger.com (raxSpA bzw. AS) unterteilt [3]. Da es sich bei beiden grundsätzlich um ein einziges Krankheitsbild handelt, unterscheiden sich nr-axSpA und AS nur hinsichtlich der Krankheitsdauer und der zu einem bestimmten Zeitpunkt nachweisbaren strukturellen Veränderungen [3]. Bei der r-axSpA sind die diagnoseweisenden strukturellen Veränderungen in den Sakroiliakalgelenken und an der Wirbelsäule ersichtlich [3, 5]. Führendes Hauptsymptom bei axSpA sind chronische – d.h. seit mehr als 12 Wochen bestehende – Rückenschmerzen, die bei 75% der Patient*innen entzündlich bedingt sind [3]. Die Schmerzen können prinzipiell an der gesamten Wirbelsäule auftreten. Vorzugsweise sind aber die sakroiliakalen vor den lumbalen Strukturen und untere thorakale vor den zervikalen und oberen thorakalen Strukturen betroffen. Häufigste periphere Manifestationen der AS sind Ar thritis und Enthesitis, die bei 30–50% der Patient*innen mit axSpA auftreten [6].","PeriodicalId":17887,"journal":{"name":"Kompass Autoimmun","volume":"70 1","pages":"137 - 141"},"PeriodicalIF":0.0,"publicationDate":"2022-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75241005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Akademischer Werdegang/besondere Stationen im Lebenslauf • Feb 2020 – aktuell Postdoc, Labor Prof. Dr. B. Becher, Experimentelle Immunologie, Universität Zürich, Schweiz (DFG Fellowship) • Mai 2022 Theodor-Frerichs-Preis (Deutsche Gesellschaft für Innere Medizin) • Dez 21 DKTK-Freiburg Young Scientist Award • Mai 2020 Promotion; Note: «Summa cum laude»; Medizinische Fakultät der Albert-LudwigsUniversität Freiburg; Erstgutachter: Prof. Dr. J. Duyster; Karl-Joseph-Beck Auszeichnung • Feb 2020 Fachärztin für Innere Medizin und Hämatologie und Onkologie • Okt 2019 Young Investigators’ Award und Auszeichnung «Best of Congress» (Jahrestagung der Deutschen, Österreichischen und Schweizerischen Gesellschaften für Hämatologie und Medizinische Onkologie) • Sept 2014 – Jan 2020 Prüfärztin für klinische Phase-I-III-Studien • Aug 2013 – Jan 2020 Physician Scientist (Assistenzärztin/Leitende Stationsärztin und Doktorandin/Projektleiterin) • Klinik für Innere Medizin I (Hämatologie, Onkologie und Stammzelltransplantation), Universitätsklinikum der Albert-Ludwigs-Universität Freiburg (Ärztlicher Direktor: Prof. Dr. J. Duyster) • Labor Prof. Dr. L. Illert, Zentrum für Translationale Zellforschung, Klinik für Innere Medizin I (Hämatologie, Onkologie und Stammzelltransplantation), Universitätsklinikum der Albert-Ludwigs-Universität Freiburg (Physician-Scientist-Programm «Success»/ Berta-Ottenstein-Programm für Clinician Scientists) • 2006–2013 Studium der Humanmedizin in München und London • 2008–2011 Studium der Wirtschaftswissenschaften (Zweitstudium) 134
{"title":"Sechs Fragen an Dr. Stefanie Kreutmair, Preisträgerin des Theodor-Frerichs-Preises 2022","authors":"Steckbrief Forschung","doi":"10.1159/000525971","DOIUrl":"https://doi.org/10.1159/000525971","url":null,"abstract":"Akademischer Werdegang/besondere Stationen im Lebenslauf • Feb 2020 – aktuell Postdoc, Labor Prof. Dr. B. Becher, Experimentelle Immunologie, Universität Zürich, Schweiz (DFG Fellowship) • Mai 2022 Theodor-Frerichs-Preis (Deutsche Gesellschaft für Innere Medizin) • Dez 21 DKTK-Freiburg Young Scientist Award • Mai 2020 Promotion; Note: «Summa cum laude»; Medizinische Fakultät der Albert-LudwigsUniversität Freiburg; Erstgutachter: Prof. Dr. J. Duyster; Karl-Joseph-Beck Auszeichnung • Feb 2020 Fachärztin für Innere Medizin und Hämatologie und Onkologie • Okt 2019 Young Investigators’ Award und Auszeichnung «Best of Congress» (Jahrestagung der Deutschen, Österreichischen und Schweizerischen Gesellschaften für Hämatologie und Medizinische Onkologie) • Sept 2014 – Jan 2020 Prüfärztin für klinische Phase-I-III-Studien • Aug 2013 – Jan 2020 Physician Scientist (Assistenzärztin/Leitende Stationsärztin und Doktorandin/Projektleiterin) • Klinik für Innere Medizin I (Hämatologie, Onkologie und Stammzelltransplantation), Universitätsklinikum der Albert-Ludwigs-Universität Freiburg (Ärztlicher Direktor: Prof. Dr. J. Duyster) • Labor Prof. Dr. L. Illert, Zentrum für Translationale Zellforschung, Klinik für Innere Medizin I (Hämatologie, Onkologie und Stammzelltransplantation), Universitätsklinikum der Albert-Ludwigs-Universität Freiburg (Physician-Scientist-Programm «Success»/ Berta-Ottenstein-Programm für Clinician Scientists) • 2006–2013 Studium der Humanmedizin in München und London • 2008–2011 Studium der Wirtschaftswissenschaften (Zweitstudium) 134","PeriodicalId":17887,"journal":{"name":"Kompass Autoimmun","volume":"3 1","pages":"134 - 136"},"PeriodicalIF":0.0,"publicationDate":"2022-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74182840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
In der Rheumatologie gibt es mehr als 200 Erscheinungsformen, für die es bis dato keine Heilungschancen gibt. Und dies, obwohl der enorme Wissenszuwachs im Kontext von rheumatologischen und muskuloskelettalen Erkrankungen (RMD) in den vergangen 2 Jahrzehnten vielfältige Therapien ermöglicht hat. Um diese Situation zu beantworten, wurde beim letzten EURLARKongress 2020 das EULAR Research Center gegründet, das im vergangenen Jahr seine Arbeit aufgenommen hat. Es soll die Kenntnis von und den Zugang zu First-class-Forschung zu RMDs in ganz Europa vereinheitlichen. Zusätzlich soll die Exzellenz der Erforschung zu neuromuskuläre Erkrankungen gebündelt und deren Qualität auf hohem Niveau gesichert werden. Auf der Pressekonferenz anlässlich des EULAR-Kongresses 2022 Anfang Juni in Kopenhagen, Dänemark, brachte es EULAR-Past-Präsident Professor Ian McInnes auf den Punkt: «Mit dem Research Center wollen wir die Remission der vielfältigen rheumatologischen Erkrankungen erreichen und damit die Lebensqualität unserer Patienten europaweit steigern.» Kompass Autoimmun 2022;5:130–133 DOI: 10.1159/000526015
{"title":"AutoimmunCampus","authors":"","doi":"10.1159/000526015","DOIUrl":"https://doi.org/10.1159/000526015","url":null,"abstract":"In der Rheumatologie gibt es mehr als 200 Erscheinungsformen, für die es bis dato keine Heilungschancen gibt. Und dies, obwohl der enorme Wissenszuwachs im Kontext von rheumatologischen und muskuloskelettalen Erkrankungen (RMD) in den vergangen 2 Jahrzehnten vielfältige Therapien ermöglicht hat. Um diese Situation zu beantworten, wurde beim letzten EURLARKongress 2020 das EULAR Research Center gegründet, das im vergangenen Jahr seine Arbeit aufgenommen hat. Es soll die Kenntnis von und den Zugang zu First-class-Forschung zu RMDs in ganz Europa vereinheitlichen. Zusätzlich soll die Exzellenz der Erforschung zu neuromuskuläre Erkrankungen gebündelt und deren Qualität auf hohem Niveau gesichert werden. Auf der Pressekonferenz anlässlich des EULAR-Kongresses 2022 Anfang Juni in Kopenhagen, Dänemark, brachte es EULAR-Past-Präsident Professor Ian McInnes auf den Punkt: «Mit dem Research Center wollen wir die Remission der vielfältigen rheumatologischen Erkrankungen erreichen und damit die Lebensqualität unserer Patienten europaweit steigern.» Kompass Autoimmun 2022;5:130–133 DOI: 10.1159/000526015","PeriodicalId":17887,"journal":{"name":"Kompass Autoimmun","volume":"76 1","pages":"130 - 133"},"PeriodicalIF":0.0,"publicationDate":"2022-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83934008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Psoriasis is a chronic inflammatory systemic disease primarily affecting the skin, but which often involves considerable comorbidities as well. One-third of psoriasis cases start during childhood. In pediatric psoriasis, an association with several medical comorbidities is also indicated. Furthermore, because of its chronic nature and frequent relapses, psoriatic patients tend to require long-term treatment and experience negative impacts on their quality of life. Considering the different clinical characteristics of pediatric psoriasis, it has recently been presented that the pathogenesis of pediatric psoriasis is distinct from adult psoriasis. Treatment for pediatric psoriasis usually involves the same methods as for adults. However, most treatments in pediatric psoriasis are used off-label and research in this regard is still lacking. Targeted therapies involving newly developed biologics are also increasingly being applied to psoriasis in children. This review summarizes the clinical characteristics of pediatric psoriasis and focuses mainly on the updated concepts of pathogenesis and treatments in pediatric psoriasis. This was undertaken to widen the understanding of these relevant aspects and to provide better management of pediatric psoriasis by clinicians.
{"title":"Psoriasis: Besonderheiten im Kindesalter","authors":"R. Fölster‐Holst","doi":"10.1159/000525459","DOIUrl":"https://doi.org/10.1159/000525459","url":null,"abstract":"Psoriasis is a chronic inflammatory systemic disease primarily affecting the skin, but which often involves considerable comorbidities as well. One-third of psoriasis cases start during childhood. In pediatric psoriasis, an association with several medical comorbidities is also indicated. Furthermore, because of its chronic nature and frequent relapses, psoriatic patients tend to require long-term treatment and experience negative impacts on their quality of life. Considering the different clinical characteristics of pediatric psoriasis, it has recently been presented that the pathogenesis of pediatric psoriasis is distinct from adult psoriasis. Treatment for pediatric psoriasis usually involves the same methods as for adults. However, most treatments in pediatric psoriasis are used off-label and research in this regard is still lacking. Targeted therapies involving newly developed biologics are also increasingly being applied to psoriasis in children. This review summarizes the clinical characteristics of pediatric psoriasis and focuses mainly on the updated concepts of pathogenesis and treatments in pediatric psoriasis. This was undertaken to widen the understanding of these relevant aspects and to provide better management of pediatric psoriasis by clinicians.","PeriodicalId":17887,"journal":{"name":"Kompass Autoimmun","volume":"1 1","pages":"119 - 120"},"PeriodicalIF":0.0,"publicationDate":"2022-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83022322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Fibrotic Interstitial lung diseases (ILD) are a heterogeneous group of chronic lung diseases characterized by diverse degrees of lung inflammation and remodeling. They include idiopathic ILD such as idiopathic pulmonary fibrosis (IPF), and ILD secondary to chronic inflammatory diseases such as connective tissue disease (CTD). Precise differential diagnosis of ILD is critical since anti-inflammatory and immunosuppressive drugs, which are beneficial in inflammatory ILD, are detrimental in IPF. However, differential diagnosis of ILD is still difficult and often requires an invasive lung biopsy. The primary aim of this study is to identify volatile organic compounds (VOCs) patterns in exhaled air to non-invasively discriminate IPF and CTD-ILD. As secondary aim, the association between the IPF and CTD-ILD discriminating VOC patterns and functional impairment is investigated. Methods: Fifty-three IPF patients, 53 CTD-ILD patients and 51 controls donated exhaled air, which was analyzed for its VOC content using gas chromatograph-time of flight-mass spectrometry. Results: By applying multivariate analysis, a discriminative profile of 34 VOCs was observed to discriminate between IPF patients and healthy controls whereas 11 VOCs were able to distinguish between CTD-ILD patients and healthy controls. The separation between IPF and CTD-ILD could be made using 16 discriminating VOCs, that also displayed a significant correlation with total lung capacity and the 6 min’ walk distance. Conclusions: This study reports for the first time that specific VOC profiles can be found to differentiate IPF and CTD-ILD from both healthy controls and each other. Moreover, an ILD-specific VOC profile was strongly correlated with functional parameters. Future research applying larger cohorts of patients suffering from a larger variety of ILDs should confirm the potential use of breathomics to facilitate fast, non-invasive and proper differential diagnosis of specific ILDs in the future as first step towards personalized medicine for these complex diseases.
{"title":"ILD: VOC-Analyse des Atemabdrucks als vielversprechende Methode der nicht invasiven Diagnostik","authors":"F. Drakopanagiotakis, A. Günther","doi":"10.1159/000526025","DOIUrl":"https://doi.org/10.1159/000526025","url":null,"abstract":"Background: Fibrotic Interstitial lung diseases (ILD) are a heterogeneous group of chronic lung diseases characterized by diverse degrees of lung inflammation and remodeling. They include idiopathic ILD such as idiopathic pulmonary fibrosis (IPF), and ILD secondary to chronic inflammatory diseases such as connective tissue disease (CTD). Precise differential diagnosis of ILD is critical since anti-inflammatory and immunosuppressive drugs, which are beneficial in inflammatory ILD, are detrimental in IPF. However, differential diagnosis of ILD is still difficult and often requires an invasive lung biopsy. The primary aim of this study is to identify volatile organic compounds (VOCs) patterns in exhaled air to non-invasively discriminate IPF and CTD-ILD. As secondary aim, the association between the IPF and CTD-ILD discriminating VOC patterns and functional impairment is investigated. Methods: Fifty-three IPF patients, 53 CTD-ILD patients and 51 controls donated exhaled air, which was analyzed for its VOC content using gas chromatograph-time of flight-mass spectrometry. Results: By applying multivariate analysis, a discriminative profile of 34 VOCs was observed to discriminate between IPF patients and healthy controls whereas 11 VOCs were able to distinguish between CTD-ILD patients and healthy controls. The separation between IPF and CTD-ILD could be made using 16 discriminating VOCs, that also displayed a significant correlation with total lung capacity and the 6 min’ walk distance. Conclusions: This study reports for the first time that specific VOC profiles can be found to differentiate IPF and CTD-ILD from both healthy controls and each other. Moreover, an ILD-specific VOC profile was strongly correlated with functional parameters. Future research applying larger cohorts of patients suffering from a larger variety of ILDs should confirm the potential use of breathomics to facilitate fast, non-invasive and proper differential diagnosis of specific ILDs in the future as first step towards personalized medicine for these complex diseases.","PeriodicalId":17887,"journal":{"name":"Kompass Autoimmun","volume":"12 1","pages":"121 - 123"},"PeriodicalIF":0.0,"publicationDate":"2022-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85479553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI), and Aicardi-Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, a Task Force was charged with the development of “points to consider” to improve diagnosis, treatment, and long-term monitoring of patients with these rare diseases. Methods: Members of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists, patient advocates, and an allied health care professional formulated research questions for a systematic literature review. Then, based on literature, Delphi questionnaires, and consensus methodology, “points to consider” to guide patient management were developed. Results: The Task Force devised consensus and evidence-based guidance of 4 overarching principles and 17 points to consider regarding the diagnosis, treatment, and long-term monitoring of patients with the autoinflammatory interferonopathies, CANDLE/PRAAS, SAVI, and AGS. Conclusion: These points to consider represent state-of-the-art knowledge to guide diagnostic evaluation, treatment, and management of patients with CANDLE/PRAAS, SAVI, and AGS and aim to standardize and improve care, quality of life, and disease outcomes.
{"title":"Die Interferon-Achse – autoinflammatorische Erkrankungen mit Kollagenose-Aspekten","authors":"M. Aringer","doi":"10.1159/000525460","DOIUrl":"https://doi.org/10.1159/000525460","url":null,"abstract":"Objective: Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI), and Aicardi-Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, a Task Force was charged with the development of “points to consider” to improve diagnosis, treatment, and long-term monitoring of patients with these rare diseases. Methods: Members of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists, patient advocates, and an allied health care professional formulated research questions for a systematic literature review. Then, based on literature, Delphi questionnaires, and consensus methodology, “points to consider” to guide patient management were developed. Results: The Task Force devised consensus and evidence-based guidance of 4 overarching principles and 17 points to consider regarding the diagnosis, treatment, and long-term monitoring of patients with the autoinflammatory interferonopathies, CANDLE/PRAAS, SAVI, and AGS. Conclusion: These points to consider represent state-of-the-art knowledge to guide diagnostic evaluation, treatment, and management of patients with CANDLE/PRAAS, SAVI, and AGS and aim to standardize and improve care, quality of life, and disease outcomes.","PeriodicalId":17887,"journal":{"name":"Kompass Autoimmun","volume":"105 1","pages":"127 - 129"},"PeriodicalIF":0.0,"publicationDate":"2022-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85899275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pustular psoriasis is a chronic inflammatory skin disease characterized by erythematous plaques with sterile pustules. It includes the distinct clinical entities generalized pustular psoriasis (GPP), acrodermatitis continua of Hallopeau (ACH) and palmoplantar pustular psoriasis (PPPP). Recently clarified pathomechanisms of pustular psoriasis indicate that hyperactivation of the skin innate immunity, including of the IL-1/IL-36 axis, plays an important role in the pathogenesis of pustular psoriasis. Autoinflammatory keratinization disease (AiKD) is the umbrella clinical entity for inflammatory keratinization disorders with genetic autoinflammatory pathomechanisms, and pustular psoriasis is a representative AiKD. To date, mutations/variants in five genes-IL36RN, CARD14, AP1S3, MPO and SERPINA3-have been reported to be genetic causative or predisposing factors for pustular psoriasis. The pathogenic mechanisms induced by the mutations/variants in these genes are all closely related to the excessive activation of skin innate immunity and autoinflammation. A number of biologics (e.g., tumor necrosis factor inhibitors, IL-17/IL-17 receptor inhibitors and IL-23 inhibitors) and granulocyte and monocyte adsorption apheresis are used to treat pustular psoriasis. Recently, based on novel information on the pathomechanisms of pustular psoriasis, which are mainly associated with autoinflammation, inhibitors of several pathogenic pathways, including of the IL-1, IL-36, IL-8 and granulocyte colony-stimulating factor signaling pathways, have been studied as emerging treatments.
{"title":"Autoinflammation und pustulöse Psoriasis","authors":"M. Sticherling","doi":"10.1159/000525969","DOIUrl":"https://doi.org/10.1159/000525969","url":null,"abstract":"Pustular psoriasis is a chronic inflammatory skin disease characterized by erythematous plaques with sterile pustules. It includes the distinct clinical entities generalized pustular psoriasis (GPP), acrodermatitis continua of Hallopeau (ACH) and palmoplantar pustular psoriasis (PPPP). Recently clarified pathomechanisms of pustular psoriasis indicate that hyperactivation of the skin innate immunity, including of the IL-1/IL-36 axis, plays an important role in the pathogenesis of pustular psoriasis. Autoinflammatory keratinization disease (AiKD) is the umbrella clinical entity for inflammatory keratinization disorders with genetic autoinflammatory pathomechanisms, and pustular psoriasis is a representative AiKD. To date, mutations/variants in five genes-IL36RN, CARD14, AP1S3, MPO and SERPINA3-have been reported to be genetic causative or predisposing factors for pustular psoriasis. The pathogenic mechanisms induced by the mutations/variants in these genes are all closely related to the excessive activation of skin innate immunity and autoinflammation. A number of biologics (e.g., tumor necrosis factor inhibitors, IL-17/IL-17 receptor inhibitors and IL-23 inhibitors) and granulocyte and monocyte adsorption apheresis are used to treat pustular psoriasis. Recently, based on novel information on the pathomechanisms of pustular psoriasis, which are mainly associated with autoinflammation, inhibitors of several pathogenic pathways, including of the IL-1, IL-36, IL-8 and granulocyte colony-stimulating factor signaling pathways, have been studied as emerging treatments.","PeriodicalId":17887,"journal":{"name":"Kompass Autoimmun","volume":"69 1","pages":"114 - 116"},"PeriodicalIF":0.0,"publicationDate":"2022-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73778222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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