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Andrea Zanichelli, Hilary J Longhurst, Marcus Maurer, Laurence Bouillet, Werner Aberer, Vincent Fabien, Irmgard Andresen, Teresa Caballero
BACKGROUND: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) causes swelling in the skin and upper airways and pain in the abdomen because of mucosal swelling. C1-INH-HAE is frequently misdiagnosed, leading to delays in diagnosis, inadequate treatment, and unnecessary procedures. OBJECTIVE: To evaluate the history of misdiagnosis in patients participating in the Icatibant Outcome Survey (IOS). METHODS: The IOS is an observational study in which safety and effectiveness of icatibant have been evaluated since 2009...
October 2016: Annals of Allergy, Asthma & Immunology
Sujoy Khan
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Hiromasa Yakushiji, Arito Kaji, Keitarou Suzuki, Motohiro Yamada, Takahiko Horiuchi, Masahiro Sinozaki
We describe a patient with hereditary angioedema type I. The patient had experienced recurrent abdominal pain around the time of her menstrual period for 13 years. A laboratory examination showed reduced functional and antigenic levels of C4 and C1 inhibitor (C1-INH). To establish a diagnosis, we carried out a DNA analysis of the patient's C1-INH gene. We determined that the patient was heterozygous for a single base pair transposition of T to C at nucleotide 4429 in exon 4, which had not been reported in the literature...
2016: Internal Medicine
Roman Hakl
Hereditární angioedém je vzácné dominantně dědičné onemocnění způsobené deficitem inhibitoru C1-esterázy (C1-INH). Onemocnění se klinicky projevuje recidivami lokalizovaných otoků podkoží a sliznic. Nemoc je hendikepující a může být i smrtelná. Charakteristická je extrémní variabilita v četnosti a závažnosti symptomů. Článek se zabývá organizací péče o pacienty a zahrnuje aktuální léčebné možnosti onemocnění. Strategie léčby zahrnuje krátkodobou a dlouhodobou profylaxi a léčbu atak...
2016: Vnitr̆ní Lékar̆ství
Anette Bygum, Inmaculada Martinez-Saguer, Murat Bas, Jeffrey Rosch, Jonathan Edelman, Mikhail Rojavin, Debora Williams-Herman
BACKGROUND: Treatment of hereditary angioedema (HAE) in 'older adults' (those aged ≥65 years) has not been well studied. The international Berinert Patient Registry collected data on the use of intravenous plasma-derived, pasteurized, nanofiltered C1-inhibitor concentrate (pnfC1-INH; Berinert(®)/CSL Behring) in patients of any age, including many older adults. METHODS: This observational registry, conducted from 2010 to 2014 at 30 US and seven European sites, gathered prospective (post-enrollment) and retrospective (pre-enrollment) usage and adverse event (AE) data on subjects treated with pnfC1-INH...
October 4, 2016: Drugs & Aging
Jinrong Fu, Furong Guo, Cheng Chen, Xiaoman Yu, Ke Hu, Mingjiang Li
The optimal treatment for chronic intermittent hypoxia (CIH)-induced cardiovascular injuries has yet to be determined. The aim of the current study was to explore the potential protective effect and mechanism of a C1 inhibitor in CIH in the myocardium. The present study used a rat model of CIH in which complement regulatory protein, known as C1 inhibitor (C1INH), was administered to the rats in the intervention groups. Cardiomyocyte apoptosis was detected by terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling...
October 2016: Experimental and Therapeutic Medicine
Joanne L Mitchell, Ausra S Lionikiene, Georgi Georgiev, Anja Klemmer, Chelsea Brain, Paul Y Kim, Nicola J Mutch
Activated factor XII (FXIIa) has plasminogen activator capacity but its relative contribution to fibrinolysis is considered marginal compared to urokinase and tissue plasminogen activator. Polyphosphate (polyP) is released from activated platelets and mediates FXII activation. Here we investigate the contribution of polyP to the plasminogen activator function of αFXIIa. We show that both polyP70, of the chain length found in platelets (60-100-mer) and platelet-derived polyP, significantly augment the plasminogen activation capacity of αFXIIa...
September 30, 2016: Blood
Veronica Squeglia, Alessandro Barbarino, Maria Bova, Carmela Gravante, Angelica Petraroli, Giuseppe Spadaro, Massimo Triggiani, Arturo Genovese, Gianni Marone
BACKGROUND: Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent attacks of swelling that affect various body sites. Such attacks are a frequent cause of visits to the emergency department and are often treated in the hospital. In recent years, self-administration of C1-inhibitor (C1-INH) concentrates at home has become an increasingly used option, with a positive impact on patient outcomes and quality of life. METHODS: This was an observational study of 6 months' duration in 56 patients with C1-INH-HAE referred to a HAE center in southern Italy...
September 29, 2016: Orphanet Journal of Rare Diseases
Rémi Baroso, Pauline Sellier, Federica Defendi, Delphine Charignon, Arije Ghannam, Mohammed Habib, Christian Drouet, Bertrand Favier
BACKGROUND: Angioedema without wheals (AE) is a symptom characterised by localised episodes of oedema presumably caused by kinin release from kininogen cleavage. It can result from a hereditary deficiency in C1 Inhibitor (C1Inh), but it can present with normal level of C1Inh. These forms are typically difficult to diagnose although enhanced kinin production is suspected or demonstrated in some cases. OBJECTIVES: We wanted to investigate bradykinin overproduction in all AE condition with normal C1Inh, excluding cases with enhanced kinin catabolism, and to propose this parameter as a disease biomarker...
2016: PloS One
Iris M Otani, Sandra C Christiansen, Paula Busse, Carlos A Camargo, Bruce L Zuraw, Marc A Riedl, Aleena Banerji
BACKGROUND: Emergency department (ED) management of hereditary angioedema (HAE) has been hindered by misdiagnosis and limited treatment options. Food and Drug Administration approval of 4 on-demand HAE therapies starting in 2009 and the publication of ED guidelines for angioedema management in 2014 should facilitate improvement of HAE management in the ED. OBJECTIVE: The objective of this study was to identify patient-reported areas for improvement in ED management of HAE attacks...
September 21, 2016: Journal of Allergy and Clinical Immunology in Practice
A Banerji, M Bas, J A Bernstein, I Boccon-Gibod, M Bova, J Dempster, A S Grumach, M Magerl, K Poarch, M B Ferreira
BACKGROUND: Published literature documents the substantial burden of hereditary angioedema (HAE) with C1 inhibitor deficiency on the quality of life and work productivity of patients. However, despite advances in the field and the availability of guidelines to advise health care providers (HCP) on the diagnosis and management of HAE, there are still many challenges to overcome. For example, delayed diagnosis and misdiagnosis are common, and treatment practices vary worldwide. OBJECTIVE: An international expert panel was convened to consider opportunities for improvements that would benefit patients with HAE...
September 22, 2016: Allergy & Rhinology
Haitang Wang, Yuen Yi C Tam, Sam Chen, Josh Zaifman, Roy van der Meel, Marco A Ciufolini, Pieter R Cullis
The therapeutic applications of lipid nanoparticle (LNP) formulations of small interfering RNA (siRNA) are hampered by inefficient delivery of encapsulated siRNA to the cytoplasm following endocytosis. Recent work has shown that up to 70% of endocytosed LNP-siRNA particles are recycled to the extracellular medium and thus cannot contribute to gene silencing. Niemann-Pick type C1 (NPC1) is a late endosomal/lysosomal membrane protein required for efficient extracellular recycling of endosomal contents. Here we assess the influence of NP3...
September 16, 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
Linnéa Taylor, Karin Arnér, Anna M Blom, Fredrik Ghosh
Using a previously described retinal explant culture system as an acute injury model, we here explore the role of C1q, the initiator of the classical complement pathway, in neuronal cell survival and retinal homeostasis. Full-thickness adult rat retinal explants were divided into four groups, receiving the following supplementation: C1q (50nM), C1-inhibitor (C1-inh; Berinert; 500mg/l), C1q+C1-inh, and no supplementation (culture controls). Explants were kept for 12h or 2days after which they were examined morphologically and with a panel of immunohistochemical markers...
September 15, 2016: Journal of Neuroimmunology
Dae-Jin Kwon, Dong-Hwan Kim, In-Sul Hwang, Dong-Ern Kim, Hyung-Joo Kim, Jang-Seong Kim, Kichoon Lee, Gi-Sun Im, Jeong-Woong Lee, Seongsoo Hwang
Recent progress in genetic manipulation of pigs designated for xenotransplantation ha6s shown considerable promise on xenograft survival in primates. However, genetic modification of multiple genes in donor pigs by knock-out and knock-in technologies, aiming to enhance immunological tolerance against transplanted organs in the recipients, has not been evaluated for health issues of donor pigs. We produced transgenic Massachusetts General Hospital piglets by knocking-out the α-1,3-galactosyltransferase (GT) gene and by simultaneously knocking-in an expression cassette containing five different human genes including, DAF, CD39, TFPI, C1 inhibitor (C1-INH), and TNFAIP3 (A20) [GT(-(DAF/CD39/TFPI/C1-INH/TNFAIP3)/+)] that are connected by 2A peptide cleavage sequences to release individual proteins from a single translational product...
August 23, 2016: Transgenic Research
Zsuzsanna Zotter, Nóra Veszeli, Kinga Viktória Kőhalmi, Lilian Varga, Éva Imreh, Gábor Kovács, Marsel Nallbani, Henriette Farkas
INTRODUCTION: Urinary tract infections are considered among the most common infectious disorders in humans. Various infections may have a role in inducing HAE attacks. Our study intended to evaluate bacteriuria in the urinalysis of C1-INH-HAE patients. METHODS: Urine specimens contributed by 139 C1-INH-HAE patients at the annual control visits were studied retrospectively for microorganisms. We analyzed the presence of bacteriuria in relation to the clinical symptoms...
August 22, 2016: Allergy
Delphine Gobert, Romain Paule, Denise Ponard, Pierre Levy, Véronique Frémeaux-Bacchi, Laurence Bouillet, Isabelle Boccon-Gibod, Christian Drouet, Stéphane Gayet, David Launay, Ludovic Martin, Arsène Mekinian, Véronique Leblond, Olivier Fain
Acquired angioedema (AAE) due to C1-inhibitor (C1INH) deficiency is rare. Treatment options for acute attacks are variable and used off-label. Successful treatment of the associated lymphoma with rituximab seems to prevent acute attacks in subjects with AAE. The aim of this study was to describe AAE manifestations, its associated diseases, and patients' responses to treatments in a representative cohort.A retrospective nationwide study was conducted in France. The inclusion criteria were recurrent angioedema attacks and an acquired decrease in functional C1INH <50% of the reference value...
August 2016: Medicine (Baltimore)
Henriette Farkas, Inmaculada Martinez-Saguer, Konrad Bork, Tom Bowen, Timothy Craig, Michael Frank, Anastasios E Germenis, Anete S Grumach, Andrea Luczay, Varga Lilian, Andrea Zanichelli
BACKGROUND: The consensus documents published to date on hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric patients. We intended to produce consensus recommendations for the diagnosis and management of pediatric patients with C1-INH-HAE. METHODS: During an expert panel meeting that took place during the 9th C1-Inhibitor Deficiency Workshop in Budapest, 2015 [w w w...
August 9, 2016: Allergy
Alban Deroux, Chantal Dumestre-Perard, Abir Khalil-Mgharbel, Maxime Maignan, Isabelle Boccon-Gibod, Marie-Cécile Fevre, Isabelle Vilgrain, Laurence Bouillet
BACKGROUND: The aetiology of angio-oedema (AE) is difficult to determine; however, it is essential in emergency situations when two major contexts may be present: mast cell-mediated AE and bradykinin-mediated AE. Different forms of AE are currently distinguished based on clinical criteria (spontaneous duration of the attack, presence of concomitant or late-appearing superficial urticaria, history of atopy, and others), but specific biomarkers could improve patient management. OBJECTIVE: In this prospective study, potential biomarkers have been identified, and their statistical characteristics were examined...
2016: International Archives of Allergy and Immunology
M Cicardi, C Suffritti, F Perego, S Caccia
Angioedema is defined as local, noninflammatory, self-limiting edema that is circumscribed owing to increased leakage of plasma from the capillaries located in the deep layers of the skin and the mucosae. Two mediators, histamine and bradykinin, account for most cases of angioedema. Angioedema can occur with wheals as a manifestation of urticaria, and this form is frequently allergic. In the present review, we discuss nonallergic angioedema without wheals, which can be divided into 3 acquired and 4 hereditary forms...
2016: Journal of Investigational Allergology & Clinical Immunology
Konrad Bork, Günther Witzke
OBJECTIVE: To evaluate whether activated partial thromboplastin time (APTT) could be used in the laboratory diagnosis of hereditary or acquired angioedema (HAE or AAE) with and without C1 inhibitor (C1-INH) deficiency. METHODS: In a prospective investigation, APTT and other coagulation parameters were determined in 149 adult patients with various types of angioedema and in 26 healthy participants (HP). RESULTS: Mean APTT was significantly shortened in HAE-C1-INH type I (p < 0...
2016: International Archives of Allergy and Immunology
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