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1. Microfibrillar-associated protein 4 as a predictive biomarker of treatment response in patients with chronic inflammatory diseases initiating biologics: secondary analyses based on the prospective BELIEVE cohort study

Author

Sofíudóttir, Bjørk K., Munk, Heidi L., Christensen, Robin, Möller, Sören, Overgaard, Silja H., Sorensen, Grith L., Møllegaard, Karen M., Pingel, Jessica, Nexøe, Anders B., Glerup, Henning, Guldmann, Tanja, Pedersen, Natalia, Dahlerup, Jens Frederik, Hvas, Christian L., Andersen, Karina W., Jawhara, Mohamad, Nielsen, Ole Haagen, Bergenheim, Fredrik Olof, Bygum, Anette, Davidsen, Jesper R., Sørensen, Signe Bek, Brodersen, Jacob B., Kjeldsen, Jens, Andersen, Vibeke, and Ellingsen, Torkell

Published
2024
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2. Definition, acronyms, nomenclature, and classification of angioedema (DANCE): AAAAI, ACAAI, ACARE, and APAAACI DANCE consensus

Author

Reshef, Avner, Buttgereit, Thomas, Betschel, Stephen D., Caballero, Teresa, Farkas, Henriette, Grumach, Anete S., Hide, Michihiro, Jindal, Ankur K., Longhurst, Hilary, Peter, Jonathan, Riedl, Marc A., Zhi, Yuxiang, Aberer, Werner, Abuzakouk, Mohamed, Al Farsi, Tariq, Al Sukaiti, Nashat, Al-Ahmad, Mona, Altrichter, Sabine, Aygören-Pürsün, Emel, Baeza, Maria Luisa, Bara, Noemi Anna, Bauer, Andrea, Bernstein, Jonathan A., Boccon-Gibod, Isabelle, Bonnekoh, Hanna, Bouillet, Laurence, Brzoza, Zenon, Bygum, Anette, Calderon, Oscar, de Albuquerque Campos, Regis, Campos Romero, Freya Helena, Cancian, Mauro, Chong-Neto, Herberto Jose, Christoff, George, Cimbollek, Stefan, Cohn, Danny M., Craig, Timothy, Danilycheva, Inna, Darlenski, Razvigor, Du-Thanh, Aurélie, Ensina, Luis Felipe, Fomina, Daria, Fonacier, Luz, Fukunaga, Atsushi, Gelincik, Asli, Giavina-Bianchi, Pedro, Godse, Kiran, Gompels, Mark, Goncalo, Margarida, Gotua, Maia, Guidos-Fogelbach, Guillermo, Guilarte, Mar, Kasperska-Zajac, Alicja, Katelaris, Constance H., Kinaciyan, Tamar, Kolkhir, Pavel, Kulthanan, Kanokvalai, Kurowski, Marcin, Latysheva, Elena, Lauerma, Antti, Launay, David, Lleonart, Ramon, Lumry, William, Malbran, Alejandro, Ali, Ramzy Mohammed, Nasr, Iman, Nieto-Martinez, Sandra, Parisi, Claudio, Pawankar, Ruby, Piñero-Saavedra, Macarena, Popov, Todor A., Porebski, Grzegorz, Prieto Garcia, Alicia, Pyatilova, Polina, Rudenko, Michael, Sekerel, Bulent Enis, Serpa, Faradiba Sarquis, Sheikh, Farrukh, Siebenhaar, Frank, Soria, Angèle, Staevska, Maria, Staubach, Petra, Stobiecki, Marcin, Thomsen, Simon Francis, Triggiani, Massimo, Valerieva, Anna, Valle, Solange, Van Dinh, Nguyen, Vera Ayala, Carolina Elisa, Zalewska-Janowska, Anna, Zanichelli, Andrea, Magerl, Markus, and Maurer, Marcus

Published
2024
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3. The international WAO/EAACI guideline for the management of hereditary angioedema – The 2021 revision and update

Author

Maurer, Marcus, Magerl, Markus, Betschel, Stephen, Aberer, Werner, Ansotegui, Ignacio J, Aygören-Pürsün, Emel, Banerji, Aleena, Bara, Noémi-Anna, Boccon-Gibod, Isabelle, Bork, Konrad, Bouillet, Laurence, Boysen, Henrik Balle, Brodszki, Nicholas, Busse, Paula J, Bygum, Anette, Caballero, Teresa, Cancian, Mauro, Castaldo, Anthony J, Cohn, Danny M, Csuka, Dorottya, Farkas, Henriette, Gompels, Mark, Gower, Richard, Grumach, Anete S, Guidos-Fogelbach, Guillermo, Hide, Michihiro, Kang, Hye-Ryun, Kaplan, Allen P, Katelaris, Constance H, Kiani-Alikhan, Sorena, Lei, Wei-Te, Lockey, Richard F, Longhurst, Hilary, Lumry, William, MacGinnitie, Andrew, Malbran, Alejandro, Saguer, Inmaculada Martinez, Campos, Juan José Matta, Nast, Alexander, Nguyen, Dinh, Nieto-Martinez, Sandra A, Pawankar, Ruby, Peter, Jonathan, Porebski, Grzegorz, Prior, Nieves, Reshef, Avner, Riedl, Marc, Ritchie, Bruce, Sheikh, Farrukh Rafique, Smith, William B, Spaeth, Peter J, Stobiecki, Marcin, Toubi, Elias, Varga, Lilian Agnes, Weller, Karsten, Zanichelli, Andrea, Zhi, Yuxiang, Zuraw, Bruce, and Craig, Timothy

Subjects
Prevention, Clinical Research, C1-inhibitor, DELPHI, GRADE therapy, Hereditary angioedema, diagnosis, disease control, guideline, management, prophylaxis, quality of life, recommendations, self-administration, Clinical Sciences
Abstract

Hereditary Angioedema (HAE) is a rare and disabling disease for which early diagnosis and effective therapy are critical. This revision and update of the global WAO/EAACI guideline on the diagnosis and management of HAE provides up-to-date guidance for the management of HAE. For this update and revision of the guideline, an international panel of experts reviewed the existing evidence, developed 28 recommendations, and established consensus by an online DELPHI process. The goal of these recommendations and guideline is to help physicians and their patients in making rational decisions in the management of HAE with deficient C1-inhibitor (type 1) and HAE with dysfunctional C1-inhibitor (type 2), by providing guidance on common and important clinical issues, such as: 1) How should HAE be diagnosed? 2) When should HAE patients receive prophylactic on top of on-demand treatment and what treatments should be used? 3) What are the goals of treatment? 4) Should HAE management be different for special HAE patient groups such as children or pregnant/breast feeding women? 5) How should HAE patients monitor their disease activity, impact, and control? It is also the intention of this guideline to help establish global standards for the management of HAE and to encourage and facilitate the use of recommended diagnostics and therapies for all patients.

Published
2022

4. Meta-analysis of ACE inhibitor–induced angioedema identifies novel risk locus

Author

Mathey, Carina M., Maj, Carlo, Eriksson, Niclas, Krebs, Kristi, Westmeier, Julia, David, Friederike S., Koromina, Maria, Scheer, Annika B., Szabo, Nora, Wedi, Bettina, Wieczorek, Dorothea, Amann, Philipp M., Löffler, Harald, Koch, Lukas, Schöffl, Clemens, Dickel, Heinrich, Ganjuur, Nomun, Hornung, Thorsten, Buhl, Timo, Greve, Jens, Wurpts, Gerda, Aygören-Pürsün, Emel, Steffens, Michael, Herms, Stefan, Heilmann-Heimbach, Stefanie, Hoffmann, Per, Schmidt, Börge, Mavarani, Laven, Andresen, Trine, Sørensen, Signe Bek, Andersen, Vibeke, Vogel, Ulla, Landén, Mikael, Bulik, Cynthia M., Bygum, Anette, Magnusson, Patrik K.E., von Buchwald, Christian, Hallberg, Pär, Rye Ostrowski, Sisse, Sørensen, Erik, Pedersen, Ole B., Ullum, Henrik, Erikstrup, Christian, Bundgaard, Henning, Milani, Lili, Rasmussen, Eva Rye, Wadelius, Mia, Ghouse, Jonas, Sachs, Bernhardt, Nöthen, Markus M., and Forstner, Andreas J.

Published
2024
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5. Impact of gluten intake on clinical outcomes in patients with chronic inflammatory diseases initiating biologics: Secondary analysis of the prospective multicentre BELIEVE cohort study.

Author

Gregersen, Laura, Jessen, Pernille Dyhre, Lund, Helene Wiencke, Overgaard, Silja Hvid, Hikmat, Zainab, Ellingsen, Torkell, Kjeldsen, Jens, Pedersen, Andreas Kristian, Petersen, Sofie Ronja, Jawhara, Mohamad, Nexøe, Anders Bathum, Bygum, Anette, Hvas, Christian Lodberg, Dahlerup, Jens Frederik, Bergenheim, Frederik Olof, Glerup, Henning, Henriksen, Rikke Holm, Guldmann, Tanja, Hvid, Lone, and Brodersen, Jacob

Subjects
CROHN'S disease, ULCERATIVE colitis, PSORIATIC arthritis, GLUTEN, CHRONICALLY ill
Abstract

Chronic inflammatory diseases (CIDs) pose a growing healthcare challenge, with a substantial proportion of patients showing inadequate response to biological treatment. There is renewed interest in dietary changes to optimize treatment regimens, with a growing body of evidence suggesting beneficial effects with adherence to a gluten‐free diet. This study compared the likelihood of achieving clinical response to biological treatment after 14–16 weeks in patients with CID with high versus low‐to‐medium gluten intake. Secondary outcomes of interest included changes in disease activity, health‐related quality of life and C‐reactive protein. The study was a multicentre prospective cohort of 193 participants with a CID diagnosis (i.e. Crohn's Disease, Ulcerative Colitis, Rheumatoid Arthritis, Axial Spondyloarthritis, Psoriatic Arthritis or Psoriasis) who initiated biological treatment between 2017 and 2020. Participants were stratified based on their habitual gluten intake: the upper 33.3% (high gluten intake) and the remaining 66.6% (low‐to‐medium gluten intake). The proportion of patients achieving clinical response to biological treatment after 14–16 weeks was compared using logistic regression models. The median gluten intake differed significantly between groups (12.5 g/day vs. 5.9 g/day, standardized mean difference = 1.399). In total, 108 (56%) achieved clinical response to treatment, with no difference between 35 (55%) in the high gluten group and 73 (57%) in the medium‐to‐low gluten group (OR = 0.96 [0.51–1.79], p = 0.897). No differences were found with secondary outcomes. In conclusion, this study found no association between gluten intake and response to biological treatment in patients with CID. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Elastosis perforans serpiginosa related to vascular Ehlers-Danlos syndrome

Author

Uldall Pallesen, Kristine Appel, Lindahl, Kim Hein, and Bygum, Anette

Subjects
elastosis perforans serpiginosa, vascular Ehlers-Danlos syndrome
Abstract

Elastosis perforans serpiginosa (EPS) is a rare skin disease with elimination of connective tissue fibers from dermis to epidermis. The typical presentation shows hyperkeratotic red or skin-colored papules arranged in a circinate pattern. We present a 26-year-old woman with EPS known to have vascular Ehlers-Danlos syndrome.

Published
2019

7. Consensus on treatment goals in hereditary angioedema: A global Delphi initiative

Author

Maurer, Marcus, Aygören-Pürsün, Emel, Banerji, Aleena, Bernstein, Jonathan A., Balle Boysen, Henrik, Busse, Paula J., Bygum, Anette, Caballero, Teresa, Castaldo, Anthony J., Christiansen, Sandra C., Craig, Timothy, Farkas, Henriette, Grumach, Anete S., Hide, Michihiro, Katelaris, Constance H., Li, H. Henry, Longhurst, Hilary, Lumry, William R., Magerl, Markus, Martinez-Saguer, Inmaculada, Riedl, Marc A., Zhi, Yuxiang, and Zuraw, Bruce

Published
2021
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8. Effects of smoking on clinical treatment outcomes amongst patients with chronic inflammatory diseases initiating biologics: secondary analyses of the prospective BELIEVE cohort study.

Author

Larsen, Maja Graves Rosenkilde, Overgaard, Silja Hvid, Petersen, Sofie Ronja, Møllegaard, Karen Mai, Munk, Heidi Lausten, Nexøe, Anders Bathum, Glerup, Henning, Guldmann, Tanja, Pedersen, Natalia, Saboori, Sanaz, Dahlerup, Jens Frederik, Hvas, Christian Lodberg, Andersen, Karina Winther, Jawhara, Mohamad, Haagen Nielsen, Ole, Bergenheim, Fredrik Olof, Brodersen, Jacob Broder, Bygum, Anette, Ellingsen, Torkell, and Kjeldsen, Jens

Subjects
CROHN'S disease, BIOTHERAPY, ULCERATIVE colitis, RHEUMATOID arthritis, CHRONICALLY ill
Abstract

The prevalence and disease burden of chronic inflammatory diseases (CIDs) are predicted to rise. Patients are commonly treated with biological agents, but the individual treatment responses vary, warranting further research into optimizing treatment strategies. This study aimed to compare the clinical treatment responses in patients with CIDs initiating biologic therapy based on smoking status, a notorious risk factor in CIDs. In this multicentre cohort study including 233 patients with a diagnosis of Crohn's disease, ulcerative colitis, rheumatoid arthritis, axial spondyloarthritis, psoriatic arthritis or psoriasis initiating biologic therapy, we compared treatment response rates after 14 to 16 weeks and secondary outcomes between smokers and non‐smokers. We evaluated the contrast between groups using logistic regression models: (i) a "crude" model, only adjusted for the CID type, and (ii) an adjusted model (including sex and age). Among the 205 patients eligible for this study, 53 (26%) were smokers. The treatment response rate among smokers (n = 23 [43%]) was lower compared to the non‐smoking CID population (n = 92 [61%]), corresponding to a "crude" OR of 0.51 (95% CI: [0.26;1.01]) while adjusting for sex and age resulted in consistent findings: 0.51 [0.26;1.02]. The contrast was apparently most prominent among the 38 RA patients, with significantly lower treatment response rates for smokers in both the "crude" and adjusted models (adjusted OR 0.13, [0.02;0.81]). Despite a significant risk of residual confounding, patients with CIDs (rheumatoid arthritis in particular) should be informed that smoking probably lowers the odds of responding sufficiently to biological therapy. Registration: Clinical.Trials.gov NCT03173144. [ABSTRACT FROM AUTHOR]

Published
2024
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12. International Consensus on the Use of Genetics in the Management of Hereditary Angioedema

Author

Andrejevic, Sladjana, Aygören-Pürsün, Emel, Bara, Noemi-Anna, Bernstein, Jonathan, Bork, Konrad, Bouillet, Laurence, Bova, Maria, Boysen, Henrik Halle, Bygum, Anette, Caballero, Teresa, Castaldo, Anthony, Christiansen, Sandra, Cicardi, Marco, Fabiani, Jose, Katelaris, Connie, Dewald, Georg, Gökmen, Nihal M., Gonzalez-Quevedo, Maria Teresa, Gooi, Jimmy, Grivcheva-Panovska, Vesna, Grumach, Anete, Hakl, Roman, Hardy, Gaelle, Jesenak, Milos, Kaplan, Allen, Kirschfink, Michael, Köhalmi, Kinga Viktoria, Leibovich, Iris, Longhurst, Hilary J., Lumry, William, Magerl, Markus, Saguer, Inmaculada Martinez, Nagy, Imola Beatrix, Nieto, Sandra, Nordenfelt, Patrik, Porębski, Grzegorz, Psarros, Fotis, Reshef, Avner, Riedl, Marc A., Sheikh, Farrukh, Peter, Spath, Speletas, Matthaios, Staevska, Maria, Stobiecki, Marcin, Triggiani, Massimo, Veszeli, Nora, Waserman, Susan, Weber, Christina, Wuillemin, Walter, Zuraw, Bruce, Germenis, Anastasios E., Margaglione, Maurizio, Pesquero, João Bosco, Farkas, Henriette, Cichon, Sven, Csuka, Dorottya, Lera, Alberto López, Rijavec, Matija, Jolles, Stephen, Szilagyi, Agnes, Trascasa, Margarita López, Veronez, Camila Lopes, Drouet, Christian, and Zamanakou, Maria

Published
2020
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13. Jessner lymphocytic infiltration – rare in childhood

Author

Petersen, Martine Prütz, Vestergaard, Vibeke, and Bygum, Anette

Subjects
Jessner lymphocytic infiltrate
Abstract

We present a 13-year-old girl with Jessner lymphocytic infiltrate of the skin, who has suffered from the disease since the age of 9 years. It is a rare disease in childhood, and we highlight the clinical features and therapeutic response of tacrolimus.

Published
2017

15. Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark

Author

Herlin, Laura Krogh, primary, Schmidt, Sigrun A. J., additional, Hermann, Xenia Buus, additional, Rønholt, Kirsten, additional, Bygum, Anette, additional, Schuster, Annette, additional, Lei, Ulrikke, additional, Mogensen, Mette, additional, Vinding, Gabrielle R., additional, Djursby, Malene, additional, Hove, Hanne, additional, Blechingberg, Jenny, additional, Graversen, Lise, additional, Mogensen, Trine H., additional, Gjørup, Hans, additional, Langan, Sinéad M., additional, and Sommerlund, Mette, additional

Published
2024
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16. A core outcome set for efficacy of acute treatment of hereditary angioedema

Author

Petersen, Remy S., primary, Fijen, Lauré M., additional, Apfelbacher, Christian, additional, Magerl, Markus, additional, Weller, Karsten, additional, Aberer, Werner, additional, Adatia, Adil, additional, Audhya, Paul, additional, Bara, Noémi-Anna, additional, Betschel, Stephen, additional, Boccon-Gibod, Isabelle, additional, Bouillet, Laurence, additional, Brodszki, Nicholas, additional, Busse, Paula J., additional, Buttgereit, Thomas, additional, Bygum, Anette, additional, Cancian, Mauro, additional, Craig, Timothy, additional, Csuka, Dorottya, additional, Farkas, Henriette, additional, Fomina, Daria, additional, Gil-Serrano, Johana, additional, Gompels, Mark, additional, Fogelbach, Guillermo Guidos, additional, Guilarte, Mar, additional, Hide, Michihiro, additional, Kiani-Alikhan, Sorena, additional, Kinaciyan, Tamar, additional, Lenten, Annet, additional, lleonart, Ramon, additional, Longhurst, Hilary, additional, Lumry, William R., additional, Malbran, Alejandro, additional, Malinauskiene, Laura, additional, Matta Campos, Juan J., additional, Mendivil, Joan, additional, Nieto-Martinez, Sandra A., additional, Peter, Jonathan G., additional, Porebski, Grzegorz, additional, Reshef, Avner, additional, Riedl, Marc, additional, Valerieva, Anna, additional, Waserman, Susan, additional, Maurer, Marcus, additional, and Cohn, Danny M., additional

Published
2024
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21. Genome-wide association study of angioedema induced by angiotensin-converting enzyme inhibitor and angiotensin receptor blocker treatment

Author

Rasmussen, Eva Rye, Hallberg, Pär, Baranova, Ekaterina V., Eriksson, Niclas, Karawajczyk, Malgorzata, Johansson, Caroline, Cavalli, Marco, Maroteau, Cyrielle, Veluchamy, Abirami, Islander, Gunilla, Hugosson, Svante, Terreehorst, Ingrid, Asselbergs, Folkert W., Norling, Pia, Johansson, Hans-Erik, Kohnke, Hugo, Syvänen, Ann-Christine, Siddiqui, Moneeza K., Lang, Chim C., Magnusson, Patrik K. E., Yue, Qun-Ying, Wadelius, Claes, von Buchwald, Christian, Bygum, Anette, Alfirevic, Ana, Maitland-van der Zee, Anke H., Palmer, Colin N. A., and Wadelius, Mia

Published
2020
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26. 2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema

Author

Bowen, Tom, Cicardi, Marco, Farkas, Henriette, Bork, Konrad, Longhurst, Hilary J, Zuraw, Bruce, Aygoeren-Pürsün, Emel, Craig, Timothy, Binkley, Karen, Hebert, Jacques, Ritchie, Bruce, Bouillet, Laurence, Betschel, Stephen, Cogar, Della, Dean, John, Devaraj, Ramachand, Hamed, Azza, Kamra, Palinder, Keith, Paul K, Lacuesta, Gina, Leith, Eric, Lyons, Harriet, Mace, Sean, Mako, Barbara, Neurath, Doris, Poon, Man-Chiu, Rivard, Georges-Etienne, Schellenberg, Robert, Rowan, Dereth, Rowe, Anne, Stark, Donald, Sur, Smeeksha, Tsai, Ellie, Warrington, Richard, Waserman, Susan, Ameratunga, Rohan, Bernstein, Jonathan, Björkander, Janne, Brosz, Kristylea, Brosz, John, Bygum, Anette, Caballero, Teresa, Frank, Mike, Fust, George, Harmat, George, Kanani, Amin, Kreuz, Wolfhart, Levi, Marcel, Li, Henry, Martinez-Saguer, Inmaculada, Moldovan, Dumitru, Nagy, Istvan, Nielsen, Erik W, Nordenfelt, Patrik, Reshef, Avner, Rusicke, Eva, Smith-Foltz, Sarah, Späth, Peter, Varga, Lilian, and Xiang, Zhi

Abstract

Abstract Background We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) and updated this as Hereditary angioedema: a current state-of-the-art review: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema. Objective To update the International Consensus Algorithm for the Diagnosis, Therapy and Management of Hereditary Angioedema (circa 2010). Methods The Canadian Hereditary Angioedema Network (CHAEN)/Réseau Canadien d'angioédème héréditaire (RCAH) http://www.haecanada.com and cosponsors University of Calgary and the Canadian Society of Allergy and Clinical Immunology (with an unrestricted educational grant from CSL Behring) held our third Conference May 15th to 16th, 2010 in Toronto Canada to update our consensus approach. The Consensus document was reviewed at the meeting and then circulated for review. Results This manuscript is the 2010 International Consensus Algorithm for the Diagnosis, Therapy and Management of Hereditary Angioedema that resulted from that conference. Conclusions Consensus approach is only an interim guide to a complex disorder such as HAE and should be replaced as soon as possible with large phase III and IV clinical trials, meta analyses, and using data base registry validation of approaches including quality of life and cost benefit analyses, followed by large head-to-head clinical trials and then evidence-based guidelines and standards for HAE disease management.

Published
2010

27. HAE international home therapy consensus document

Author

Longhurst, Hilary J, Farkas, Henriette, Craig, Timothy, Aygören-Pürsün, Emel, Bethune, Claire, Bjorkander, Janne, Bork, Konrad, Bouillet, Laurence, Boysen, Henrik, Bygum, Anette, Caballero, Teresa, Cicardi, Marco, Dempster, John, Gompels, Mark, Gooi, Jimmy, Grigoriadou, Sofia, Huffer, Ursula, Kreuz, Wolfhart, Levi, Marcel M, Long, Janet, Martinez-Saguer, Inmaculada, Raguet, Michel, Reshef, Avner, Bowen, Tom, and Zuraw, Bruce

Abstract

Abstract Hereditary angioedema (C1 inhibitor deficiency, HAE) is associated with intermittent swellings which are disabling and may be fatal. Effective treatments are available and these are most useful when given early in the course of the swelling. The requirement to attend a medical facility for parenteral treatment results in delays. Home therapy offers the possibility of earlier treatment and better symptom control, enabling patients to live more healthy, productive lives. This paper examines the evidence for patient-controlled home treatment of acute attacks ('self or assisted administration') and suggests a framework for patients and physicians interested in participating in home or self-administration programmes. It represents the opinion of the authors who have a wide range of expert experience in the management of HAE.

Published
2010

33. Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema

Author

Haslund, Didde, Ryo, Laura Barrett, Majidi, Sara Seidelin, Rose, Iben, Skipper, Kristian Alsbjerg, Fryland, Tue, Bohn, Anja Bille, Koch, Claus, Thomsen, Martin K., Palarasah, Yaseelan, Corydon, Thomas J., Bygum, Anette, Nejsum, Lene N., and Mikkelsen, Jacob Giehm

Subjects
Research, Risk factors, Patient outcomes, Care and treatment, Genetic variation -- Research, Angioneurotic edema -- Risk factors -- Patient outcomes -- Care and treatment
Abstract

IntroductionHereditary angioedema (HAE) is a rare autosomal dominant Jm,genetic disease with an estimated prevalence of 1:50,000 to 1:70,000 worldwide (1-3). HAE is characterized by recurrent nonpitting edema attacks of the [...], Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent edema attacks associated with morbidity and mortality. HAE results from variations in the SERPING1 gene that encodes the C1 inhibitor (C1INH), a serine protease inhibitor (serpin). Reduced plasma levels of C1INH lead to enhanced activation of the contact system, triggering high levels of bradykinin and increased vascular permeability, but the cellular mechanisms leading to low C1INH levels (20%-30% of normal) in heterozygous HAE type I patients remain obscure. Here, we showed that C1INH encoded by a subset of HAE-causing SERPING1 alleles affected secretion of normal C1INH protein in a dominant-negative fashion by triggering formation of protein-protein interactions between normal and mutant C1INH, leading to the creation of larger intracellular C1INH aggregates that were trapped in the endoplasmic reticulum (ER). Notably, intracellular aggregation of C1INH and ER abnormality were observed in fibroblasts from a heterozygous carrier of a dominant-negative SERPING1 gene variant, but the condition was ameliorated by viral delivery of the SERPING1 gene. Collectively, our data link abnormal accumulation of serpins, a hallmark of serpinopathies, with dominant-negative disease mechanisms affecting C1INH plasma levels in HAE type I patients, and may pave the way for new treatments of HAE.

Published
2019
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35. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

Author

Ü. Basmanav, F. Buket, Cau, Laura, Tafazzoli, Aylar, Méchin, Marie-Claire, Wolf, Sabrina, Romano, Maria Teresa, Valentin, Frederic, Wiegmann, Henning, Huchenq, Anne, Kandil, Rima, Garcia Bartels, Natalie, Kilic, Arzu, George, Susannah, Ralser, Damian J., Bergner, Stefan, Ferguson, David J.P., Oprisoreanu, Ana-Maria, Wehner, Maria, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Swan, Daniel, Houniet, Darren, Büchner, Aline, Weibel, Lisa, Wagner, Nicola, Grimalt, Ramon, Bygum, Anette, Serre, Guy, Blume-Peytavi, Ulrike, Sprecher, Eli, Schoch, Susanne, Oji, Vinzenz, Hamm, Henning, Farrant, Paul, Simon, Michel, and Betz, Regina C.

Published
2016
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36. Safety and Usage of C1-Inhibitor in Hereditary Angioedema: Berinert Registry Data

Author

Offenberger, Jacob, Levy, Robyn, Hurewitz, David, Li, H. Henry, Shapiro, Ralph, Bernstein, Jonathan, Craig, Timothy, Davis, Aaron, Rosch, Jeffrey, Fox, James, Janss, Gerti, Baker, James, Packer, Flint, Vegh, Art, Frank, Michael, Sher, Ellen, Busse, Paula, Wedner, James H., Riedl, Marc, Lumry, William, Amrol, David, Gower, Richard, Silber, Glenn, Portnoy, Jay, Paris, Kenneth, Darter, Amy, Mumneh, Nayla, Petrov, Andrej, Schneider, Lynda, Martinez-Saguer, Inmaculada, Staubach-Renz, Petra, Maurer, Marcus, Bas, Murat, Aygören-Pürsün, Emel, Bygum, Anette, Wuillemin, Walter, Riedl, Marc A., Magerl, Markus, Bernstein, Jonathan A., Frank, Michael M., Edelman, Jonathan, Williams-Herman, Debora, Feuersenger, Henrike, and Rojavin, Mikhail

Published
2016
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37. Psychometric Field Study of Hereditary Angioedema Quality of Life Questionnaire for Adults: HAE-QoL

Author

Prior, Nieves, Remor, Eduardo, Pérez-Fernández, Elia, Caminoa, Magdalena, Gómez-Traseira, Carmen, Gayá, Francisco, Aabom, Anne, Aberer, Werner, Betschel, Stephen, Boccon-Gibod, Isabelle, Bouillet, Laurence, Bygum, Anette, Csuka, Dorottya, Farkas, Henriette, Gomide, Maria, Grumach, Anete, Leibovich, Iris, Malbran, Alejandro, Moldovan, Dumitru, Mihaly, Eniko, Obtulowicz, Krystyna, Perpén, Cecilia, Peveling-Oberhag, Adriane, Porebski, Grzegorz, Chavannes, Celine Rayonne, Reshef, Avner, Staubach, Petra, Wiednig, Michaela, and Caballero, Teresa

Published
2016
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40. Application of the waiting time distribution in a nationwide screening of real‐world dermatology drug utilization for aberrant use patterns.

Author

Delvin, Thomas, Bygum, Anette, Lund, Lars Christian, Andersen, Jacob Harbo, and Hallas, Jesper

Abstract

Background: Inappropriate use of medicines may have critical consequences from individual, public health, and economic perspectives. Discovering wrongful medicine use may require intentional surveillance or screening. Objectives: The objectives of this study were to: (i) apply and evaluate the waiting time distribution (WTD) method as a screening tool for identifying aberrant drug use and (ii) evaluate the nationwide use of Dermatology drugs in Denmark for signals of aberrant drug use. Method: Dermatology drug use data from the Danish nationwide healthcare registries from 2018 to 2020 were used to produce WTDs that were analyzed for drug use patterns. The method provides estimates of the prevalence and incidence and enables estimation of mean treatment duration, drug relapse, and unexpected drug prescribing. Results: The study included 2 027 889 individual drug users and analyzed 6 141 449 prescriptions. The analysis included approximately 100 dermatology drugs and drug categories and produced 56 WTD drug curves. The WTD patterns and epidemiological estimates confirmed that most drugs are used as intended and revealed few unexpected patterns for further investigation. Three unexpected findings were identified concerning (i) short‐term use that would entail suboptimal clinical efficiency for minoxidil, (ii) sub‐optimal use of topical tacrolimus, and (iii) potential undesirable increase in short‐course doxycycline treatments. Conclusion: In Denmark, dermatology drugs are predominantly used as expected, with few unexpected use patterns identified. Targeted specific follow‐up on the identified signals is necessary for conclusions about inappropriate use. The findings suggest that the WTD method is applicable for screening for aberrant drug use. [ABSTRACT FROM AUTHOR]

Published
2024
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41. Keratosis pilaris

Author

Drivenes, Jakob Lillemoen, primary, Vasilescu, Ileana Codruta, primary, and Bygum, Anette, primary

Published
2023
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44. Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome

Author

Liu, Yanshan, primary, Banka, Siddharth, additional, Huang, Yingzhi, additional, Hardman-Smart, Jonathan, additional, Pye, Derek, additional, Torrelo, Antonio, additional, Beaman, Glenda M., additional, Kazanietz, Marcelo G., additional, Baker, Martin J., additional, Ferrazzano, Carlo, additional, Shi, Chenfu, additional, Orozco, Gisela, additional, Eyre, Stephen, additional, van Geel, Michel, additional, Bygum, Anette, additional, Fischer, Judith, additional, Miedzybrodzka, Zosia, additional, Abuzahra, Faris, additional, Rübben, Albert, additional, Cuvertino, Sara, additional, Ellingford, Jamie M., additional, Smith, Miriam J., additional, Evans, D. Gareth, additional, Weppner-Parren, Lizelotte J.M.T., additional, van Steensel, Maurice A.M., additional, Chaudhary, Iskander H., additional, Mangham, D. Chas, additional, Lear, John T., additional, Paus, Ralf, additional, Frank, Jorge, additional, Newman, William G., additional, and Zhang, Xue, additional

Published
2022
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50. Indledning

Author

Rasmussen, Anders Juhl, Maagaard, Cindie Aaen, Bygum, Anette, Sodemann, Morten, Rasmussen, Anders Juhl, Maagaard, Cindie Aaen, Bygum, Anette, and Sodemann, Morten

Subjects
narrativ medicin, litteratur, narrativer, sundhedshumaniora
Published
2021

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