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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/29735903/pharmaceutical-machine-learning-virtual-high-throughput-screens-identifying-promising-and-economical-small-molecule-inhibitors-of-complement-factor-c1s
#3
Jonathan J Chen, Lyndsey N Schmucker, Donald P Visco
When excessively activated, C1 is insufficiently regulated, which results in tissue damage. Such tissue damage causes the complement system to become further activated to remove the resulting tissue damage, and a vicious cycle of activation/tissue damage occurs. Current Food and Drug Administration approved treatments include supplemental recombinant C1 inhibitor, but these are extremely costly and a more economical solution is desired. In our work, we have utilized an existing data set of 136 compounds that have been previously tested for activity against C1...
May 7, 2018: Biomolecules
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/29715562/idiopathic-non-histaminergic-acquired-angioedema-vs-hereditary-angioedema
#6
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/29709957/suffocation-due-to-acute-airway-edema-in-a-patient-with-hereditary-angioedema-highlighted-the-need-for-urgent-improvements-in-treatment-availability-in-japan
#7
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
#8
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/29688579/evaluation-of-avoralstat-an-oral-kallikrein-inhibitor-in-a-phase-3-hereditary-angioedema-prophylaxis-trial-the-opus-2-study
#9
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/29669666/hereditary-angioedema-from-the-patient-s-perspective-a-follow-up-patient-survey
#10
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
#11
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/29629730/icatibant-outcome-survey-in-patients-with-hereditary-angioedema-experience-in-israel-compared-with-other-countries
#12
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/29629678/hereditary-angio-oedema-in-the-western-cape-province-south-africa
#13
K M Coovadia, M-Y Chothia, S G Baker, J G Peter, P C Potter
BACKGROUND: Hereditary angio-oedema (HAE) is an autosomal dominant condition caused by a deficiency in the C1-esterase inhibitor protein, resulting in increased bradykinin release. It presents clinically with recurrent attacks of angio-oedema, commonly affecting the limbs, face, upper airway and gastrointestinal tract. Little is known about this condition in sub-Saharan Africa. OBJECTIVES: To analyse and report on the clinical presentation and treatment of patients with HAE in the Western Cape Province, South Africa...
March 28, 2018: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/29628436/the-rheumatoid-arthritis-associated-citrullinome
#14
Ronak Tilvawala, Son Hong Nguyen, Aaron J Maurais, Venkatesh V Nemmara, Mitesh Nagar, Ari J Salinger, Sunil Nagpal, Eranthie Weerapana, Paul R Thompson
Increased protein citrullination is linked to various diseases including rheumatoid arthritis (RA), lupus, and cancer. Citrullinated autoantigens, a hallmark of RA, are recognized by anti-citrullinated protein antibodies (ACPAs) which are used to diagnose RA. ACPA-recognizing citrullinated enolase, vimentin, keratin, and filaggrin are also pathogenic. Here, we used a chemoproteomic approach to define the RA-associated citrullinome. The identified proteins include numerous serine protease inhibitors (Serpins), proteases and metabolic enzymes...
March 21, 2018: Cell Chemical Biology
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
#15
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/29609502/fluid-shear-stress-promotes-osteoblast-proliferation-through-the-nfatc1-erk5-pathway
#16
Ning Ding, Bin Geng, Zhonghao Li, Quanzeng Yang, Liang Yan, Lang Wan, Bo Zhang, Cuifang Wang, Yayi Xia
PURPOSE: Extracellular signal regulated kinase 5 (ERK5) is thought to regulate osteoblast proliferation. To further understand how ERK5 signalling regulates osteoblast proliferation induced by fluid shear stress (FSS), we examined some potential signalling targets associated with ERK5 in MC3T3-E1 cells. METHODS: MC3T3-E1 cells were treated with XMD8-92 (an ERK5 inhibitor) or Cyclosporin A (CsA, a Nuclear Factor of Activated T Cells (NFAT) c1 inhibitor) and/or exposed to 12 dyn/cm2 FSS...
April 3, 2018: Connective Tissue Research
https://www.readbyqxmd.com/read/29599966/effectiveness-of-icatibant-for-treatment-of-hereditary-angioedema-attacks-is-not-affected-by-body-weight-findings-from-the-icatibant-outcome-survey-a-cohort-observational-study
#17
Teresa Caballero, Andrea Zanichelli, Werner Aberer, Marcus Maurer, Hilary J Longhurst, Laurence Bouillet, Irmgard Andresen
Background: Icatibant is a bradykinin B2-receptor antagonist used for the treatment of hereditary angioedema attacks resulting from C1-inhibitor deficiency. Treatment is not adjusted by body weight however the impact of body mass index (BMI) on the effectiveness of icatibant is not documented in the literature. We examined disease characteristics and icatibant treatment effectiveness in patients stratified by BMI in the Icatibant Outcome Survey, an ongoing, international, observational study monitoring the real-world safety and effectiveness of icatibant...
2018: Clinical and Translational Allergy
https://www.readbyqxmd.com/read/29572748/the-role-of-complement-components-c1q-mbl-and-c1-inhibitor-in-pathogenesis-of-endometriosis
#18
Justyna Sikora, Agnieszka Wróblewska-Czech, Marta Smycz-Kubańska, Aleksandra Mielczarek-Palacz, Anna Cygal, Andrzej Witek, Zdzisława Kondera-Anasz
PURPOSE: The purpose of the work was to evaluate possible associations between the complement components C1q, mannose-binding lectin (MBL) and C1 inhibitor (C1INH) with pathogenesis of endometriosis. METHODS: Concentrations of C1q, MBL and C1INH were measured by ELISA in peritoneal fluid (PF) in 80 women with or without endometriosis. RESULTS: Significantly higher PF levels of C1q, MBL and C1INH in women with endometriosis compared to control group were observed (p < 0...
March 23, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29569504/c1-esterase-inhibitor-cinryze-%C3%A2-use-in-the-treatment-of-pediatric-hereditary-angioedema
#19
Ratika Gupta, Jeffrey Balduzzi, Mark Davis-Lorton
Hereditary angioedema (HAE) is a rare genetic disease resulting in unpredictable and potentially life-threatening subcutaneous and submucosal attacks mediated by the vasoactive peptide, bradykinin. HAE often presents within the first or second decade of life, with attacks increasing in both frequency and severity over time. First-line therapies exert their action by replacing C1 inhibitor (C1-INH) or via blocking the production or function of bradykinin. Cinryze® is a nanofiltered C1-INH, approved in Europe for the acute treatment, preprocedure prevention and routine prophylaxis of HAE attacks, and for routine prophylaxis of attacks in the USA...
March 23, 2018: Immunotherapy
https://www.readbyqxmd.com/read/29548426/a-missense-mutation-in-the-plasminogen-gene-within-the-plasminogen-kringle-3-domain-in-hereditary-angioedema-with-normal-c1-inhibitor
#20
Georg Dewald
Hereditary angioedema (HAE) is a genetically heterogeneous disease that is characterized by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The two classic types, HAE types I and II, are both caused by mutations in the complement C1 inhibitor (SERPING1) gene resulting either in a quantitative or a qualitative deficiency of C1 inhibitor. In so-called HAE type III, in contrast, patients show normal C1 inhibitor measurements in plasma ('HAE with normal C1 inhibitor')...
March 25, 2018: Biochemical and Biophysical Research Communications
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