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Hereditary angioedema

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https://www.readbyqxmd.com/read/29757016/icatibant-for-the-treatment-of-hereditary-angioedema-with-c1-inhibitor-deficiency-in-adolescents-and-in-children-aged-over-2-years
#1
Henriette Farkas, Kinga Viktória Kőhalmi
Hereditary angioedema (HAE) due to C1-inhibitor deficiency (C1-INH-HAE) is a rare disorder with life-threatening complications if untreated. It begins during childhood, and reduces the patient's quality of life. Therefore, the availability of an easily administered agent to relieve unpredictable HAE episodes is indispensable for this age group. Areas covered: Randomized, double-blind, placebo-controlled, open-label extensions and prospective observational studies have proven the safety and efficacy of the subcutaneously administered bradykinin B2 receptor antagonist, icatibant, in the acute treatment of HAE episodes in adult C1-INH-HAE patients...
May 14, 2018: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/29753808/targeted-next-generation-sequencing-for-the-molecular-diagnosis-of-hereditary-angioedema-due-to-c1-inhibitor-deficiency
#2
Gedeon Loules, Maria Zamanakou, Faidra Parsopoulou, Sofia Vatsiou, Fotis Psarros, Dorottya Csuka, Grzegorz Porebski, Krystyna Obtulowicz, Anna Valerieva, Maria Staevska, Alberto López-Lera, Margarita López-Trascasa, Dumitru Moldovan, Markus Magerl, Marcus Maurer, Matthaios Speletas, Henriette Farkas, Anastasios E Germenis
SERPING1 genotyping of subjects suspicious for hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) is important for clinical practice as well as for research reasons. Conventional approaches towards the detection of C1-INH-HAE-associated SERPING1 variants are cumbersome and time-demanding with many pitfalls. To take advantage of the benefits of next-generation sequencing (NGS) technology, we developed and validated a custom NGS platform that, by targeting the entire SERPING1 gene, facilitates genetic testing of C1-INH-HAE patients in clinical practice...
May 10, 2018: Gene
https://www.readbyqxmd.com/read/29737365/-anaphylactic-reaction-to-camomile-tea
#3
S Wahl, P-G Sator
The case of a man with type I allergy after the intake of camomile tea is presented. About 30 min after consumption he was hospitalised with palmar pruritus, swelling of the eyelids, upper lip and nasal mucosa as well as narrowness of the throat. Hereditary angioedema was excluded. The skin prick test confirmed the diagnosis of a type I allergy due to camomile tea.
May 8, 2018: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/29729940/a-transcriptomic-study-of-hereditary-angioedema-attacks
#4
Giuseppe Castellano, Chiara Divella, Fabio Sallustio, Vincenzo Montinaro, Claudia Curci, Andrea Zanichelli, Erika Bonanni, Chiara Suffritti, Sonia Caccia, Fleur Bossi, Anna Gallone, Francesco Paolo Schena, Loreto Gesualdo, Marco Cicardi
BACKGROUND: Hereditary Angioedema (HAE) due to C1-inhibitor deficiency is a lifelong illness characterized by recurrent acute attacks of localized skin or mucosal edema. An activation of the kallikrein/bradykinin pathway at endothelial cell level has a relevant pathogenetic role in acute HAE attacks. Moreover, other pathways are involved, given the variable clinical expression of the disease in different patients. OBJECTIVE: To explore the involvement of other putative genes in the edema formation...
May 3, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29728119/epidemiology-of-bradykinin-mediated-angioedema-a-systematic-investigation-of-epidemiological-studies
#5
Emel Aygören-Pürsün, Markus Magerl, Andreas Maetzel, Marcus Maurer
BACKGROUND: Bradykinin-mediated angioedema (Bk-AE) can be life-threatening and requires specific targeted therapies. Knowledge of its epidemiology may help optimize its management. METHODS: We systematically searched the medical literature to identify abstracts of interest indexed between 1948 and March, 2016. We used published national survey data on the proportion of the population treated with angiotensin-converting enzyme inhibitors (ACEI) to derive estimates of the population prevalence of ACEI-AE in the USA, Germany and France...
May 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29723342/brazilian-guidelines-for-hereditary-angioedema-management-2017-update-part-1-definition-classification-and-diagnosis
#6
Pedro Giavina-Bianchi, Luisa Karla Arruda, Marcelo V Aun, Regis A Campos, Herberto J Chong-Neto, Rosemeire N Constantino-Silva, Fátima R Fernandes, Maria F Ferraro, Mariana P L Ferriani, Alfeu T França, Gustavo Fusaro, Juliana F B Garcia, Shirley Komninakis, Luana S M Maia, Eli Mansour, Adriana S Moreno, Antonio A Motta, João B Pesquero, Nathalia Portilho, Nelson A Rosário, Faradiba S Serpa, Dirceu Solé, Priscila Takejima, Eliana Toledo, Solange O.R Valle, Camila L Veronez, Anete S Grumach
Hereditary angioedema is an autosomal dominant disease characterized by recurrent angioedema attacks with the involvement of multiple organs. The disease is unknown to many health professionals and is therefore underdiagnosed. Patients who are not adequately diagnosed and treated have an estimated mortality rate ranging from 25% to 40% due to asphyxiation by laryngeal angioedema. Intestinal angioedema is another important and incapacitating presentation that may be the main or only manifestation during an attack...
2018: Clinics
https://www.readbyqxmd.com/read/29715562/idiopathic-non-histaminergic-acquired-angioedema-vs-hereditary-angioedema
#7
Noémi Andrási, Nóra Veszeli, Kinga Viktória Kőhalmi, Dorottya Csuka, György Temesszentandrási, Lilian Varga, Henriette Farkas
BACKGROUND: The mechanism of idiopathic non-histaminergic acquired angioedema (InH-AAE) has not yet been precisely elucidated. This condition is characterized by recurrent angioedema without wheals. OBJECTIVE: To study the clinical features of InH-AAE, and to make, for the first time, independent comparisons with hereditary angioedema of unknown origin (U-HAE), as well as with hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE). METHODS: We compared the clinical parameters of 46 InH-AAE patients to those of 27 patients suffering from U-HAE, as well as of 73 patients with C1-INH-HAE...
April 28, 2018: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29713035/cyclization-of-peptides-with-two-chemical-bridges-affords-large-scaffold-diversities
#8
Sangram S Kale, Camille Villequey, Xu-Dong Kong, Alessandro Zorzi, Kaycie Deyle, Christian Heinis
Successful screening campaigns depend on large and structurally diverse collections of compounds. In macrocycle screening, variation of the molecular scaffold is important for structural diversity, but so far it has been challenging to diversify this aspect in large combinatorial libraries. Here, we report the cyclization of peptides with two chemical bridges to provide rapid access to thousands of different macrocyclic scaffolds in libraries that are easy to synthesize, screen and decode. Application of this strategy to phage-encoded libraries allowed for the screening of an unprecedented structural diversity of macrocycles against plasma kallikrein, which is important in the swelling disorder hereditary angioedema...
April 30, 2018: Nature Chemistry
https://www.readbyqxmd.com/read/29709957/suffocation-due-to-acute-airway-edema-in-a-patient-with-hereditary-angioedema-highlighted-the-need-for-urgent-improvements-in-treatment-availability-in-japan
#9
Daisuke Honda, Isao Ohsawa, Yuki Shimizu, Masayuki Maiguma, Teruo Hidaka, Hitoshi Suzuki, Hiroaki Io, Satoshi Mano, Hisatsugu Takahara, Hisaki Rinno, Yasuhiko Tomino, Yusuke Suzuki
A 42-year-old Japanese man with hereditary angioedema suffered accidental trauma to his jaw in Shizuoka Prefecture, Japan, which gradually caused facial edema. Since plasma-derived human C1 inhibitor (pdh C1-INH) was unavailable, he had to be transferred to Juntendo University Hospital in Tokyo. Due to his severe edema, he suffered asphyxiation leading to cardiopulmonary arrest upon arrival. The patient was resuscitated and promptly treated with pdh C1-INH. In Japan, the self-administration of pdh C1-INH is not allowed, and every prefecture does not always possess stocks of pdh C1-INH...
April 27, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29696352/-allergic-emergencies
#10
REVIEW
A-C Herr, T Biedermann, K Brockow
Both anaphylactic reactions and angioedema in the head and neck area can be life-threatening and require emergency treatment. Therapy needed is primarily directed by the patient's symptoms. The first measures taken should consist of immediate disruption of the allergen contact, adequate positioning of the patient, the insertion of an intravenous catheter and an emergency call. In case of cardiovascular or respiratory involvement, intramuscular ± inhalative adrenalin is the treatment of choice. In case of cardiovascular involvement, volume substitution by intravenous catheter and oxygen administration are crucial and in lower airway obstruction, additionally short-acting beta mimetics should be inhaled...
April 25, 2018: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/29694969/clinical-features-of-hereditary-angioedema-in-korean-patients-a-nationwide-multicenter-study
#11
Jae-Woo Jung, Dong In Suh, Hye Jung Park, Sujeong Kim, Hyouk Soo Kwon, Min Suk Yang, Chan Sun Park, Joo-Hee Kim, Sae-Hoon Kim, Yong Won Lee, Gyu Young Hur, Young-Min Ye, Yong Eun Kwon, Hye-Kyung Park, Cheol Woo Kim, Young-Il Koh, Jung Wong Park, Jong-Myung Lee, Kyung-Up Min, Paige Wickner, Hye-Ryun Kang
BACKGROUND: Hereditary angioedema (HAE) is a genetically heterogeneous autosomal dominant disorder characterized by recurrent episodes of nonpruritic, nonpitting edema increasing after puberty. It can be fatal due to laryngeal or gastrointestinal (GI) involvement with varied and changing frequency of mortality according to studies published from the Western countries. Epidemiological and clinical data of HAE in Asian countries are sparse. We sought to examine the clinical characteristics of HAE patients in Korea...
April 25, 2018: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/29688579/evaluation-of-avoralstat-an-oral-kallikrein-inhibitor-in-a-phase-3-hereditary-angioedema-prophylaxis-trial-the-opus-2-study
#12
Marc A Riedl, Emel Aygören-Pürsün, James Baker, Henriette Farkas, John Anderson, Jonathan A Bernstein, Laurence Bouillet, Paula Busse, Michael Manning, Markus Magerl, Mark Gompels, Aarnoud P Huissoon, Hillary Longhurst, William Lumry, Bruce Ritchie, Ralph Shapiro, Daniel Soteres, Aleena Banerji, Mauro Cancian, Douglas T Johnston, Timothy J Craig, David Launay, H Henry Li, Myron Liebhaber, Timothy Nickel, Jacob Offenberger, William Rae, Rik Schrijvers, Massimo Triggiani, H James Wedner, Sylvia Dobo, Melanie Cornpropst, Desiree Clemons, Lei Fang, Phil Collis, William P Sheridan, Marcus Maurer
BACKGROUND: Effective inhibition of plasma kallikrein may have significant benefits for patients with hereditary angioedema due to deficiency of C1 inhibitor (C1-INH-HAE) by reducing the frequency of angioedema attacks. Avoralstat is a small molecule inhibitor of plasma kallikrein. This study (OPuS-2) evaluated the efficacy and safety of prophylactic avoralstat 300 or 500 mg compared with placebo. METHODS: OPuS-2 was a Phase 3, multicenter, randomized, double-blind, placebo-controlled, parallel-group study...
April 24, 2018: Allergy
https://www.readbyqxmd.com/read/29673745/-acquired-c1-esterase-inhibitor-deficiency-via-bradykinin-mediated-angioedema-four-cases
#13
C Jacquin-Porretaz, F Castelain, E Daguindau, E Seilles, C Nardin, F Aubin, F Pelletier
BACKGROUND: Acquired C1-esterase inhibitor (C1-INH) deficiency angioedema (C1-INH-AAE) is a form of bradykinin-mediated angioedema. This rare disorder is due to acquired consumption of C1-INH, hyperactivation of the classic pathway of human complement, and potentially fatal recurrent angioedema symptoms. Clinical symptoms of C1-INH-AAE are very similar to those of hereditary angioedema (HAE) but usually appear after the fourth decade of life and induce abdominal pain less frequently. Laboratory tests are essential in establishing the diagnosis with low levels or abnormal structure and function of C1-INH...
April 16, 2018: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29669666/hereditary-angioedema-from-the-patient-s-perspective-a-follow-up-patient-survey
#14
Aleena Banerji, Yu Li, Paula Busse, Marc A Riedl, Nicole S Holtzman, Huamin Henry Li, Mark Davis-Lorton, Jonathan A Bernstein, Michael Frank, Anthony J Castaldo, Janet Long, Bruce Zuraw, William Lumry, Sandra Christiansen
BACKGROUND: We conducted our first patient survey at the 2013 hereditary angioedema (HAE) patient summit and learned that, despite several novel therapies, the burden of disease was high. OBJECTIVE: To determine, from the patient's perspective, if any improvements in the current state of HAE care occurred over a two-year period between HAE patient summits. METHODS: A patient survey was conducted at the 2015 Hereditary Angioedema Association conference by using paper surveys that aimed at understanding the current state of HAE care...
May 1, 2018: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/29666724/in-vitro-fertilization-using-luteinizing-hormone-releasing-hormone-injections-resulted-in-healthy-triplets-without-increased-attack-rates-in-a-hereditary-angioedema-case
#15
Ceyda Tunakan Dalgıç, Fatma Düşünür Günsen, Gökten Bulut, Emine Nihal Mete Gökmen, Aytül Zerrin Sin
Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. The management of pregnant patients with C1-INH-HAE is a challenge for the physician. Intravenous plasma-derived nanofiltered C1-INH (pdC1INH) is the only recommended option throughout pregnancy, postpartum, and breastfeeding period. In order to increase pregnancy rates, physicians use fertilization therapies increasing endogen levels of estrogens. Therefore, these techniques can provoke an increase in the number and severity of edema attacks in C1-INH-HAE...
2018: Case Reports in Immunology
https://www.readbyqxmd.com/read/29657616/hereditary-angioedema-restricted-to-the-digestive-tract
#16
Marcin Sochal, Agata Gabryelska, Marek K Kowalski, Katarzyna Biernacka, Anna Lewandowska-Polak, Marek L Kowalski, Ewa Małecka-Panas
No abstract text is available yet for this article.
2018: Przegla̜d Gastroenterologiczny
https://www.readbyqxmd.com/read/29629730/icatibant-outcome-survey-in-patients-with-hereditary-angioedema-experience-in-israel-compared-with-other-countries
#17
Elias Toubi, Shmuel Kivity, Yael Graif, Avner Reshef, Jaco Botha, Irmgard Andresen
BACKGROUND: Management of patients with hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is evolving worldwide. Evaluating the Israeli experience may provide valuable insights. OBJECTIVES: To compare demographics and icatibant treatment patterns and outcomes in patients with C1-INH-HAE enrolled in the Icatibant Outcome Survey (IOS) in Israel with those in other countries. METHODS: The IOS is an ongoing observational study that prospectively monitors real-world icatibant safety/tolerability and treatment outcomes...
April 2018: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29623547/first-analysis-of-serping1-gene-in-patients-with-hereditary-angioedema-in-colombia-reveals-two-genotypic-variants-in-a-highly-symptomatic-individual
#18
Jairo A Rodríguez, Carlos F Narváez
Hereditary angioedema (HAE) is a heterogeneous genetic disease caused by a deficit in C1 inhibitor (C1-INH) and clinically characterized by sudden events of edema, swelling, and pruritus. Here, we describe the first SERPING1 genotyping in 22 subjects from 4 non-related families, all from southern Colombia. The previously reported heterozygous gene mutations, c.1081C>T (p.Gln361*), c.1396C>G (p.Arg466Gly), c.1029+84G>A, or c.106_107del (p.Ser36Phefs*21), were found in 12 patients. Of note, a single patient clinically characterized as severe HAE type 2 expressed mutations in exon 8 and intron 6, whereas all the others have type 1 HAE and expressed one pathogenic variant...
April 5, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29623491/the-complex-alteration-in-the-network-of-il-17-type-cytokines-in-patients-with-hereditary-angioedema
#19
Francesco Arcoleo, Mariangela Lo Pizzo, Gabriella Misiano, Salvatore Milano, Giuseppina Colonna Romano, Vito Muggeo, Enrico Cillari
Hereditary angioedema (HAE) is a rare autosomic-dominant disorder characterized by a deficiency of C1 esterase inhibitor which causes episodic swellings of subcutaneous tissues, bowel walls and upper airways that are disabling and potentially life-threatening. We evaluated n = 17 patients with confirmed HAE diagnosis during attack and remission state and n = 19 healthy subjects. The samples were tested for a panel of IL (Interleukin)-17-type cytokines (IL-1β, IL-6, IL-10, granulocyte-macrophage colony stimulating factor (GM-CSF), IL-17, IL-21, IL-22, IL-23) and transforming growth factor-beta (TGF-β) subtypes...
April 6, 2018: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/29619023/functional-complement-analysis-can-predict-genetic-testing-results-and-long-term-outcome-in-patients-with-complement-deficiencies
#20
Štefan Blazina, Maruša Debeljak, Mitja Košnik, Saša Simčič, Sanja Stopinšek, Gašper Markelj, Nataša Toplak, Peter Kopač, Breda Zakotnik, Marko Pokorn, Tadej Avčin
Background: Prevalence of complement deficiencies (CDs) is markedly higher in Slovenian primary immunodeficiency (PID) registry in comparison to other national and international PID registries. Objective: The purposes of our study were to confirm CD and define complete and partial CD in registered patients in Slovenia, to evaluate frequency of clinical manifestations, and to assess the risk for characteristic infections separately for subjects with complete and partial CD...
2018: Frontiers in Immunology
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