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JOURNAL ARTICLE
Andreas Sandberg, Mariann Lassenius, Ville Vihervaara, Iiro Toppila, Laura Huilaja
No abstract text is available yet for this article.
May 6, 2024: Acta Dermato-venereologica
#2
Jonathan Estaris, Marina Ostroukhova
This case presents an instance of an extremely delayed diagnosis of hereditary angioedema (HAE) type I in an elderly female with no significant past medical history. The patient had a prolonged history of recurrent lip swelling and itchiness dating back to her teenage years, leading to multiple visits to the emergency room (ER). These recurrent episodes were characterized by random onset and accompanied by generalized pruritus and urticaria. During these ER visits, the patient would be inappropriately treated for presumed hypersensitivity reaction due to her confounding environmental allergies presenting with urticaria, complicating and significantly delaying her diagnosis...
March 2024: Curēus
#3
JOURNAL ARTICLE
Valentina Prada-Moreno, Juan David Wilches-Gutiérrez, Diana Roció Arias-Osorio
OBJECTIVE: Describe the design and implementation of a transdisciplinary care model for patients with hereditary angioedema in Colombia. METHODS: Descriptive longitudinal observational study. 140 patients with hereditary angioedema were included in a transdisciplinary care model for one year. Seizure rates, hospitalizations, emergency room visits, quality of life, and pharmacological adherence were measured. RESULTS: The model was associated with reductions of 76% in seizures, 66% in hospitalizations, and 87% in emergency room visits...
February 1, 2024: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
#4
JOURNAL ARTICLE
Oscar Manuel Calderón-Llosa, Danny Muñoz-Campos, Margarita Olivares-Gómez
OBJECTIVE: To report the registry of the HAE Peruvian patient's association. METHODS: We used the questionnaire of the Latin American HAE committee. Consent was requested from the patient's association to report the data. RESULTS: We report data of 63 patients, 51 Female, 12 Male, range age between 6 to 74 years. Nine under 18 years old, 5/9 between 6 to 13 years. Forty-five HAE C1-INH type I, 12 HAE-FXII, 5 HAE UNK, 1 AAE. Symptoms onset average age in 56/62 HAE patients was 16...
February 1, 2024: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
#5
JOURNAL ARTICLE
Oscar Calderón, Danny Muñoz, Margarita Olivares
BACKGROUND: Hereditary Angioedema (HAE) is a rare disease characterized by episodes of swelling, HAE crisis could cause death by suffocation, and also affect the quality of life in these patients. There exists an important disparity of HAE specific treatments between countries, inclusive in the same region, currently in Perú we use moderate and high doses of Tranexamic Acid (TA) in prophylaxis therapy and in acute HAE crisis respectively. OBJECTIVE: To report our experience with TA in three types of HAE patients and be a guide to other countries with this therapy, where HAE specific treatments are not registered...
February 1, 2024: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
#6
JOURNAL ARTICLE
Nina Rupar, Julij Šelb, Mitja Košnik, Mihaela Zidarn, Slađana Andrejević, Ljerka Čulav, Vesna Grivčeva-Panovska, Peter Korošec, Matija Rijavec
Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) is a rare genetic disorder caused by pathogenic variants in the SERPING1 gene and characterised by swelling and a highly variable clinical phenotype. We aimed to identify novel modifying genetic factors predisposing to the clinical symptoms. We performed whole exome sequencing (WES) and comprehensive bioinformatic analysis in symptomatic and asymptomatic (three duos) family members with HAE-C1-INH. Selected variants identified using WES (present in all asymptomatic and absent in symptomatic patients) were determined using Sanger sequencing...
April 26, 2024: Gene
#7
REVIEW
Tukisa D Smith, Marc A Riedl
Hereditary angioedema (HAE) is a rare, genetic condition causing unpredictable and severe episodes of angioedema that are debilitating and life-threatening. HAE can be classified into HAE due to C1INH deficiency (HAE-C1INH), or HAE with normal C1INH (HAE-nl-C1INH). HAE-C1INH is subcategorized as type I and II based upon deficient or dysfunctional circulating C1INH protein resulting from inherited or spontaneous mutations in the SERPING1 gene leading to uncontrolled Factor XII(FXII)/plasma kallikrein activation and excessive bradykinin production...
April 26, 2024: Annals of Allergy, Asthma & Immunology
#8
REVIEW
Petra Wisniewski, Tanja Gangnus, Bjoern B Burckhardt
BACKGROUND: The kallikrein-kinin system is a key regulatory cascade involved in blood pressure maintenance, hemostasis, inflammation and renal function. Currently, approved drugs remain limited to the rare disease hereditary angioedema. However, growing interest in this system is indicated by an increasing number of promising drug candidates for further indications. METHODS: To provide an overview of current drug development, a two-stage literature search was conducted between March and December 2023 to identify drug candidates with targets in the kallikrein-kinin system...
April 26, 2024: Journal of Translational Medicine
#9
JOURNAL ARTICLE
Avner Reshef, Thomas Buttgereit, Stephen D Betschel, Teresa Caballero, Henriette Farkas, Anete S Grumach, Michihiro Hide, Ankur K Jindal, Hilary Longhurst, Jonathan Peter, Marc A Riedl, Yuxiang Zhi, Werner Aberer, Mohamed Abuzakouk, Tariq Al Farsi, Nashat Al Sukaiti, Mona Al-Ahmad, Sabine Altrichter, Emel Aygören-Pürsün, Maria Luisa Baeza, Noemi Anna Bara, Andrea Bauer, Jonathan A Bernstein, Isabelle Boccon-Gibod, Hanna Bonnekoh, Laurence Bouillet, Zenon Brzoza, Anette Bygum, Oscar Calderon, Regis de Albuquerque Campos, Freya Helena Campos Romero, Mauro Cancian, Herberto Jose Chong-Neto, George Christoff, Stefan Cimbollek, Danny M Cohn, Timothy Craig, Inna Danilycheva, Razvigor Darlenski, Aurélie Du-Thanh, Luis Felipe Ensina, Daria Fomina, Luz Fonacier, Atsushi Fukunaga, Asli Gelincik, Pedro Giavina-Bianchi, Kiran Godse, Mark Gompels, Margarida Goncalo, Maia Gotua, Guillermo Guidos-Fogelbach, Mar Guilarte, Alicja Kasperska-Zajac, Constance H Katelaris, Tamar Kinaciyan, Pavel Kolkhir, Kanokvalai Kulthanan, Marcin Kurowski, Elena Latysheva, Antti Lauerma, David Launay, Ramon Lleonhart, William Lumry, Alejandro Malbran, Ramzy Mohammed Ali, Iman Nasr, Sandra Nieto-Martinez, Claudio Parisi, Ruby Pawankar, Macarena Piñero-Saavedra, Todor A Popov, Grzegorz Porebski, Alicia Prieto Garcia, Polina Pyatilova, Michael Rudenko, Bulent Enis Sekerel, Faradiba Sarquis Serpa, Farrukh Sheikh, Frank Siebenhaar, Angèle Soria, Maria Staevska, Petra Staubach, Marcin Stobiecki, Simon Francis Thomsen, Massimo Triggiani, Anna Valerieva, Solange Valle, Nguyen Van Dinh, Carolina Elisa Vera Ayala, Anna Zalewska-Janowska, Andrea Zanichelli, Markus Magerl, Marcus Maurer
BACKGROUND: Angioedema (AE) manifests with intermittent, localized, self-limiting swelling of the subcutaneous and/or submucosal tissue. AE is heterogeneous, can be hereditary or acquired, occurs only once or be recurrent, with or without wheals, due to mast cell mediators, bradykinin or other mechanisms. Currently, different taxonomic systems are used, making it difficult to compare the results of studies, develop multicenter collaboration, and harmonize treatments of AE patients. OBJECTIVE: To develop a consensus on the definition, acronyms, nomenclature, and classification of angioedema (DANCE)...
April 24, 2024: Journal of Allergy and Clinical Immunology
#10
JOURNAL ARTICLE
Anne Troldborg, Zsofia Godnic-Polai, László Cervenak, Annette G Hansen, Henriette Farkas, Steffen Thiel
BACKGROUND: Hereditary angioedema (HAE) is a genetic disorder that manifests as recurrent angioedema attacks, most frequently due to absent or reduced C1 inhibitor (C1-INH) activity. C1-INH is a crucial regulator of enzymatic cascades in the complement, fibrinolytic, and contact systems. Inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) is an abundant plasma protease inhibitor that can inhibit enzymes in the proteolytic pathways associated with HAE. Nothing is known about its role in HAE...
April 22, 2024: Journal of Allergy and Clinical Immunology
#11
Beatrice De Maria, Monica Parati, Yagis Bey, Laura Adelaide Dalla Vecchia, Francesca Perego
Autonomic nervous system (ANS) regulation in hereditary angioedema (HAE) and coronavirus disease 2019 (COVID-19) is unknown. ANS alterations could be manifested during both the acute and post-acute phases of COVID-19. Implications of acute and chronic inflammation on ANS in HAE need to be addressed. In this case report, we monitored the systolic arterial blood pressure variability and baroreflex sensitivity in a female HAE patient both before experiencing COVID-19 symptoms and one month afterward. We also tracked the heart rate variability on the day preceding symptom onset, the day of symptom onset (SYM), the day following SYM, five days after SYM, the day of the first negative nasopharyngeal swab (i...
March 2024: Curēus
#12
JOURNAL ARTICLE
Matthew Allison, Rebecca L Davie, Adrian J Mogg, Sally L Hampton, Jonas Emsley, Michael J Stocks
Hereditary angioedema (HAE), a rare genetic disorder, is associated with uncontrolled plasma kallikrein (PKa) enzyme activity leading to the generation of bradykinin swelling in subcutaneous and submucosal membranes in various locations of the body. Herein, we describe a series of potent α-amidobenzylboronates as potential covalent inhibitors of PKa. These compounds exhibited time-dependent inhibition of PKa (compound 20 IC50 66 nM at 1 min, 70 pM at 24 h). Further compound dissociation studies demonstrated that 20 showed no apparent reversibility comparable to d-Phe-Pro-Arg-chloromethylketone (PPACK) ( 23 ), a known nonselective covalent PKa inhibitor...
April 11, 2024: ACS Medicinal Chemistry Letters
#13
JOURNAL ARTICLE
Remy S Petersen, Lauré M Fijen, Christian Apfelbacher, Markus Magerl, Karsten Weller, Werner Aberer, Adil Adatia, Paul Audhya, Noémi-Anna Bara, Stephen Betschel, Isabelle Boccon-Gibod, Laurence Bouillet, Nicholas Brodszki, Paula J Busse, Thomas Buttgereit, Anette Bygum, Mauro Cancian, Timothy Craig, Dorottya Csuka, Henriette Farkas, Daria Fomina, Johana Gil-Serrano, Mark Gompels, Guillermo Guidos Fogelbach, Mar Guilarte, Michihiro Hide, Sorena Kiani-Alikhan, Tamar Kinaciyan, Annet Lenten, Ramon Lleonart, Hilary Longhurst, William R Lumry, Alejandro Malbran, Laura Malinauskiene, Juan J Matta Campos, Joan Mendivil, Sandra A Nieto-Martinez, Jonathan G Peter, Grzegorz Porebski, Avner Reshef, Marc Riedl, Anna Valerieva, Susan Waserman, Marcus Maurer, Danny M Cohn
BACKGROUND: Clinical trials investigating drugs for acute treatment of hereditary angioedema attacks have assessed many different outcomes. This heterogeneity limits comparability of trial results and may lead to selective outcome reporting bias and a high burden on trial participants. OBJECTIVE: To achieve consensus on a Core Outcome Set comprising key outcomes that should ideally be utilized in all clinical efficacy trials involving acute treatment of hereditary angioedema attacks...
April 10, 2024: Journal of Allergy and Clinical Immunology in Practice
#14
JOURNAL ARTICLE
Maureen Watt, Mia Malmenas, Katrin Haeussler
No abstract text is available yet for this article.
April 12, 2024: Journal of Comparative Effectiveness Research
#15
JOURNAL ARTICLE
Öner Özdemir, Ümmügülsüm Dikici
Like many microbial agents, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and its vaccination may increase the frequency and/or severity of attacks. We aimed to observe/evaluate patients with hereditary angioedema (HAE) followed by Sakarya University Research/Training Hospital pediatric allergy unit, Sakarya, Türkiye, for the effects of SARS-CoV-2 infection and COVID-19 vaccination. Ten HAE patients-3 males and 7 females-were evaluated retrospectively. Their mean age was 31.80 ± 19...
April 2024: World Allergy Organization Journal
#16
JOURNAL ARTICLE
Marija Rozevska, Adine Kanepa, Signe Purina, Linda Gailite, Inga Nartisa, Henriette Farkas, Dmitrijs Rots, Natalja Kurjane
Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific symptoms and overlapping conditions. This study focuses on the genetic basis of HAE, particularly focusing on unresolved cases and those with normal C1-inhibitor levels (nC1-INH HAE). This study reveals that conventional testing identified pathogenic variants in only 10 patients (n = 32), emphasizing the necessity for an integrative approach using genome, exome, and transcriptome sequencing. Despite extensive genetic analyses, the diagnostic yield for nC1-INH HAE remains low in our study, the pathogenic variant for nC1-INH HAE was identified in only 1 patient (n = 21)...
March 30, 2024: Allergy, Asthma, and Clinical Immunology
#17
Travis Satnarine, Alana Xavier de Almeida, Jennifer Gebbia, Gary Kleiner, Melissa Gans
This case report underscores the effective implementation of a delivery plan for a pregnant patient, focusing on a successful case study where a cesarean section, preceded by the pre-treatment of intravenous plasma-derived C1 inhibitor, resulted in the delivery of a healthy baby. The proposed delivery plan offers a systematic approach to managing hereditary angioedema during pregnancy. It recommends opting for delivery at an academic center equipped with high-risk obstetric care, obstetric anesthesia, and a level 4 Neonatal Intensive Care Unit...
February 2024: Curēus
#18
JOURNAL ARTICLE
Janette M Birmingham, Juan Wisnivesky, Paula J Busse
BACKGROUND: Hereditary angioedema with C1-inhibitor deficiency (HAE-C1INH) is a rare autosomal disorder presenting with recurrent angioedema. Estrogen-containing medications trigger angioedema in some patients, and conversely, progesterone may decrease attack frequency. The mechanism by which estrogen may exacerbate angioedema in HAE-C1INH is not well characterized. OBJECTIVE: Our aim was to investigate the link between estrogen and bradykinin constituents to better understand the specific underlying triggers that may exacerbate angioedema in patients with HAE-C1INH...
May 2024: J Allergy Clin Immunol Glob
#19
JOURNAL ARTICLE
Deucrictibant for angioedema due to acquired C1-inhibitor deficiency: a randomized-controlled trial.
Remy S Petersen, Lauré M Fijen, Johannes P Kelder, Danny M Cohn
BACKGROUND: Angioedema due to acquired C1-inhibitor deficiency is a very rare but serious disease, with an estimated prevalence of 1 per 500,000 persons. There are no approved therapies to treat or prevent angioedema swellings in patients with this condition. Deucrictibant is a specific, orally bioavailable, competitive antagonist of the bradykinin B2 receptor currently under investigation for hereditary angioedema. OBJECTIVE: To assess the efficacy and safety of deucrictibant as acute and prophylactic treatment for angioedema due to acquired C1-inhibitor deficiency...
March 15, 2024: Journal of Allergy and Clinical Immunology
#20
JOURNAL ARTICLE
The Disease Burden of Hereditary Angioedema: Insights from a Survey in French-Canadians from Quebec.
Jean-Nicolas Boursiquot, Hugo Chapdelaine, Charles St-Pierre, Jacques Hébert
BACKGROUND: Limited data are available on the clinical profile and disease burden of hereditary angioedema (HAE) in Canadians. OBJECTIVE: This study aimed to assess HAE disease characteristics and the burden of disease in Canadians with HAE types I, II, and normal levels of C1 inhibitor (nC1-INH). MATERIALS AND METHODS: A 46-item patient survey evaluating clinical characteristics and burden of disease was developed and disseminated by the HAE patient organization Angio-oédeme héréditaire du Québec in Quebec, Canada, from May 2019 to February 2020...
2024: Journal of Immunology Research
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