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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
Abdullateef Abdulkareem, Ryan S D'Souza, Joshua Mundorff, Pragya Shrestha, Oluwaseun Shogbesan, Anthony Donato
Acquired angioedema due to C1 inhibitor deficiency (C1INH-AAE) is a rare and potentially fatal syndrome of bradykinin-mediated angioedema characterized by episodes of angioedema without urticaria. It typically manifests with nonpitting edema of the skin and edema in the gastrointestinal (GI) tract mucosa or upper airway. Edema of the upper airway and tongue may lead to life-threatening asphyxiation. C1INH-AAE is typically under-diagnosed because of its rarity and its propensity to mimic more common abdominal conditions and allergic reactions...
2018: Case Reports in Hematology
Vijay A Patel, Laila Siddique, Lauren Stahl, Michele M Carr
BACKGROUND: The objective of this work was to assess resident education regarding contemporary management of hereditary angioedema using a web-based survey. METHODS: An 11-item, multiple-choice, electronic questionnaire was sent to all 106 accredited otolaryngology training programs in November 2016. Questions focused on resident education, management principles, and formalized assessment. RESULTS: A total of 34 program directors responded, representing 32% of otolaryngology residences...
March 15, 2018: International Forum of Allergy & Rhinology
Vesna Grivčeva-Panovska, Mitja Košnik, Peter Korošec, Slađana Andrejević, Ljerka Karadža-Lapić, Matija Rijavec
OBJECTIVE: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare disease, characterized by swellings. We aimed to characterize on a clinical and molecular basis C1-INH-HAE patients in the Republic of Macedonia. RESULTS: All 15 patients from six unrelated families were diagnosed with C1-INH-HAE type I, with a mean age of symptom onset of 11 years and an average delay of diagnosis of 7 years. Patients reported on average 31 angioedema attacks/year, with a median clinical severity score (CSS) of 7...
March 7, 2018: Annals of Medicine
E Marbán Bermejo, T Caballero, M López-Trascasa, P Caballero Peregrín, J Gil Herrera
No abstract text is available yet for this article.
2018: Journal of Investigational Allergology & Clinical Immunology
Jehanathan Nilojan, S D N K Bathige, W S Thulasitha, Hyukjae Kwon, Sumi Jung, Myoung-Jin Kim, Bo-Hye Nam, Jehee Lee
C1-inhibitor (C1inh) plays a crucial role in assuring homeostasis and is the central regulator of the complement activation involved in immunity and inflammation. A C1-inhibitor gene from Sebastes schlegelii was identified and designated as SsC1inh. The identified genomic DNA and cDNA sequences were 6837 bp and 2161 bp, respectively. The genomic DNA possessed 11 exons, interrupted by 10 introns. The amino acid sequence possessed two immunoglobulin-like domains and a serpin domain. Multiple sequence alignment revealed that the serpin domain of SsC1inh was highly conserved among analyzed species where the two immunoglobulin-like domains showed divergence...
February 11, 2018: Fish & Shellfish Immunology
Maria Bach Okholm-Hansen, Anna Hillert Winther, Christina Fagerberg, Marianne Antonius Jakobsen, Anette Bygum
Hereditary angio-oedema (HAE) is a rare, potentially fatal disease characterized by recurrent swelling of skin and mucosa. Besides HAE with quantitative (type I) or qualitative (type II) deficiency of complement C1-inhibitor (C1-INH), a new subtype of HAE is now described with normal levels of C1-INH. This subtype is possibly underdiagnosed, and a treatment regimen and general knowledge about the condition is still in its infancy. The purpose of this article is to inform Danish doctors about the disease to identify more Danish patients...
February 5, 2018: Ugeskrift for Laeger
Junfeng Ma, Miloslav Sanda, Renhuizi Wei, Lihua Zhang, Radoslav Goldman
Aberrant core fucosylation of proteins has been linked to liver diseases. In this study, we carried out multiple reaction monitoring (MRM) quantification of core fucosylated N-glycopeptides of serum proteins partially deglycosylated by a combination of endoglycosidases (endoF1, endoF2, and endoF3). To minimize variability associated with the preparatory steps, the analysis was performed without enrichment of glycopeptides or fractionation of serum besides the nanoRP chromatography. Specifically, we quantified core fucosylation of 22 N-glycopeptides derived from 17 proteins together with protein abundance of these glycoproteins in a cohort of 45 participants (15 disease-free control, 15 fibrosis and 15 cirrhosis patients) using a multiplex nanoUPLC-MS-MRM workflow...
February 7, 2018: Journal of Proteomics
Alvin H Schmaier
Plasma prekallikrein (PK) has a critical role in acute attacks of hereditary angioedema (HAE). Unlike C1 inhibitor, its levels fall during HAE attacks with resultant cleaved high-molecular-weight kininogen. Cleavage of high-molecular-weight kininogen liberates bradykinin, the major biologic peptide that promotes the edema. How prekallikrein initially becomes activated in acute attacks of HAE is not known. PK itself is negatively associated with cardiovascular disease. High prekallikrein is associated with accelerated vascular disease in diabetes and polymorphisms of prekallikrein that reduce high-molecular-weight kininogen binding are associated with protection from cardiovascular events...
2018: Frontiers in Medicine
Bruce L Zuraw
No abstract text is available yet for this article.
February 1, 2018: Journal of Allergy and Clinical Immunology
Shengye Zhang, Jane Shaw-Boden, Yara Banz, Anjan K Bongoni, Adriano Taddeo, Rolf Spirig, Marc W Nolte, Peter J Cowan, Robert Rieben
OBJECTIVE: Ischemia-reperfusion (I/R) injury is a major clinical problem linked to vascular surgery. Currently, no drugs to prevent or to treat I/R injury are approved for clinical use. C1 inhibitor (C1 INH) is known to reduce activation of the plasma cascade systems that are involved in the pathophysiologic process of I/R injury. The aim of this study was therefore to investigate the effect of C1 INH on complement deposition and endothelial cell activation in a rat model of hind limb I/R injury...
January 27, 2018: Journal of Vascular Surgery
Maria Bova, Giulia De Feo, Roberta Parente, Tiziana De Pasquale, Carmela Gravante, Stefano Pucci, Eustachio Nettis, Massimo Triggiani
Recurrent angioedema (AE) without wheals is increasingly recognized as a clinical entity and a frequent cause of admission to the emergency room. The Hereditary Angioedema Working Group (HAWK) classification allowed the scientific community to go beyond the semantic confusion that dominated this topic for decades. This classification distinguishes hereditary and acquired forms of AE, either related or unrelated to C1 inhibitor deficiency. Recently, additional mechanisms have been involved in the AE pathogenesis, including the uncontrolled activation of factor XII, generation of vasoactive mediators that induce dysregulation of endothelial functions, and bidirectional interactions between mast cell-derived mediators and the plasma contact system...
2018: International Archives of Allergy and Immunology
William R Lumry, Timothy Craig, Bruce Zuraw, Hilary Longhurst, James Baker, H Henry Li, Jonathan A Bernstein, John Anderson, Marc A Riedl, Michael E Manning, Paul K Keith, Donald S Levy, Teresa Caballero, Aleena Banerji, Richard G Gower, Henriette Farkas, John-Philip Lawo, Ingo Pragst, Thomas Machnig, Douglas J Watson
BACKGROUND: Hereditary angioedema with C1-INH deficiency (C1-INH-HAE) impairs health-related quality of life (HRQoL). OBJECTIVE: To assess HRQoL outcomes in patients self-administering subcutaneous C1-INH (C1-INH[SC]; HAEGARDA®) for routine prevention of HAE attacks. METHODS: Post-hoc analysis of data from a placebo-controlled, crossover phase III study (COMPACT). Ninety patients with C1-INH-HAE were randomized to 1 of 4 treatment sequences: C1-INH(SC) 40 IU/kg or 60 IU/kg twice-weekly for 16 weeks, preceded or followed by 16 weeks of twice-weekly placebo injections...
January 29, 2018: Journal of Allergy and Clinical Immunology in Practice
Nathan M Johnson, Mariana A Phillips
Hereditary angioedema is characterized by severe, episodic edema of the subcutaneous and mucosal tissue. The disease carries significant morbidity and mortality due to involvement of the gastrointestinal tract and upper airway. Recent advances in the treatment of hereditary angioedema include new techniques used to isolate and purify human-derived C1 inhibitor, the production of a recombinant form of C1 inhibitor, and the development of drugs that target the kallikrein-kinin pathway. This paper reviews the mechanisms, efficacy, and adverse reactions associated with these medications...
January 2018: Skin Therapy Letter
Sonia Caccia, Chiara Suffritti, Thomas Carzaniga, Romina Berardelli, Silvia Berra, Vincenzo Martorana, Annamaria Fra, Christian Drouet, Marco Cicardi
C1-inhibitor is a serine protease inhibitor (serpin) controlling complement and contact system activation. Gene mutations result in reduced C1-inhibitor functional plasma level causing hereditary angioedema, a life-threatening disorder. Despite a stable defect, the clinical expression of hereditary angioedema is unpredictable, and the molecular mechanism underlying this variability remains undisclosed. Here we report functional and structural studies on the Arg378Cys C1-inhibitor mutant found in a patient presenting reduced C1-inhibitor levels, episodically undergoing normalization...
January 17, 2018: Scientific Reports
Ying Zhang, Michael A Tortorici, Dipti Pawaskar, Ingo Pragst, Thomas Machnig, Matthew Hutmacher, Bruce Zuraw, Marco Cicardi, Timothy Craig, Hilary Longhurst, Jagdev Sidhu
Subcutaneous C1-inhibitor (HAEGARDA, CSL Behring), is a US Food and Drug Administration (FDA)-approved, highly concentrated formulation of a plasma-derived C1-esterase inhibitor (C1-INH), which, in the phase III Clinical Studies for Optimal Management in Preventing Angioedema with Low-Volume Subcutaneous C1-inhibitor Replacement Therapy (COMPACT) trial, reduced the incidence of hereditary angioedema (HAE) attacks when given prophylactically. Data from the COMPACT trial were used to develop a repeated time-to-event model to characterize the timing and frequency of HAE attacks as a function of C1-INH activity, and then develop an exposure-response model to assess the relationship between C1-INH functional activity levels (C1-INH(f)) and the risk of an attack...
January 9, 2018: CPT: Pharmacometrics & Systems Pharmacology
Ri Youn Kim, Yeju Seong, Tae Hyung Cho, Beomseok Lee, In Sook Kim, Soon Jung Hwang
Nuclear factor of activated T cells (NFAT)-c1 is known as a key regulator in osteoclast differentiation and immune response. This study is a follow-up to our previous study showing the anti-resorptive activity of VIVIT, a peptide type NFATc1 inhibitor, using absorbable collagen sponge (ACS). This study aimed to investigate the effective concentration range of local VIVIT that suppresses early excessive osteoclast activation and inflammation induced by high-dose recombinant human bone morphogenetic protein (rhBMP)-2 and concomitantly enhances bone healing in a rat critical-sized calvaria defect model...
January 9, 2018: Journal of Biomedical Materials Research. Part A
Susan S Wan, Tracey D Ying, Kate Wyburn, Darren M Roberts, Melanie Wyld, Steven J Chadban
BACKGROUND: Current treatments for antibody-mediated rejection (AMR) in kidney transplantation are based on low-quality data from a small number of controlled trials. Novel agents targeting B-cells, plasma-cells and the complement system have featured in recent studies of AMR. METHODS: We conducted a systematic review and meta-analysis of controlled trials in kidney transplant recipients using Medline, EMBASE and CENTRAL from inception to February 2017. RESULTS: Of 14,380 citations we identified 21 studies, including 10 randomized controlled trials, involving 751 participants...
January 8, 2018: Transplantation
E P Olthof, M R van de Scheur, A E Weis-Potters
BACKGROUND: Angioedema is a condition of acute and extensive fluid accumulation in skin or mucosae due to increased blood vessel permeability. Angioedema can have several causes, including pregnancy. CASE DESCRIPTION: A healthy 33-year-old pregnant woman had acute, substantial swelling of the labia minora with no other symptoms. Based on clinical criteria, angioedema was diagnosed. Laboratory testing did not find any C1 inhibitor deficiency and hereditary angioedema was excluded for that reason...
2018: Nederlands Tijdschrift Voor Geneeskunde
Maja Kopczynska, Wioleta Zelek, Samuel Touchard, Fiona Gaughran, Marta Di Forti, Valeria Mondelli, Robin Murray, Michael C O'Donovan, B Paul Morgan
Several lines of evidence implicate immunological/inflammatory factors in development of schizophrenia. Complement is a key driver of inflammation, and complement dysregulation causes pathology in many diseases. Here we explored whether complement dysregulation occurred in first episode psychosis (FEP) and whether this provides a source of biomarkers. Eleven complement analytes (C1q, C3, C4, C5, factor B [FB], terminal complement complex [TCC], factor H [FH], FH-related proteins [FHR125], Properdin, C1 inhibitor [C1inh], soluble complement receptor 1 [CR1]) plus C-reactive protein (CRP) were measured in serum from 136 first episode psychosis (FEP) cases and 42 mentally healthy controls using established in-house or commercial ELISA...
December 23, 2017: Schizophrenia Research
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