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  1 / 1940 MEDLINE  
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[PMID]:28950264
[Au] Autor:Grumach AS; Ferraroni N; Olivares MM; López-Serrano MC; Bygum A
[Ad] Endereço:Faculdade de Medicina ABC, Santo Andre, Brazil.
[Ti] Título:An ABC of the Warning Signs of Hereditary Angioedema.
[So] Source:Int Arch Allergy Immunol;174(1):1-6, 2017.
[Is] ISSN:1423-0097
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Hereditary angioedema (HAE) with C1 inhibitor deficiency is a genetic disorder that clinically manifests with attacks of angioedema in the subcutaneous and submucosal tissues, mainly in the extremities, abdomen, and upper airway. During attacks, vascular permeability is increased due to increased bradykinin (BK). This means that special therapies are needed for attacks that do not respond to traditional antiallergic therapies involving antihistamines, corticosteroids, and epinephrine. The recurring attacks may disable patients and lead to frequent visits to emergency rooms where misdiagnoses are common. HAE attacks may be fatal when upper-airway edema occurs, if proper treatment with a C1 inhibitor concentrate or BK receptor antagonist is not administered or an emergency tracheostomy is not performed. We propose a mnemonic method for the warning signs of HAE for the use as a diagnostic tool, i.e., the so-called "ABC" of the warning signs of HAE. The letters represent the following: A = Angioedema, B = Bradykinin, C = C1 inhibitor, D = Distress factors, E = Epinephrine nonresponsive, F = Family history, and G = Glottis/Gastrointestinal edema. To avoid fatalities, medical staff and patients, including family members, must be aware of HAE. An alphabetical mnemonic method has been developed and we hope it may benefit patients.
[Mh] Termos MeSH primário: Angioedemas Hereditários/diagnóstico
Angioedemas Hereditários/tratamento farmacológico
Antagonistas dos Receptores da Bradicinina/uso terapêutico
Bradicinina/análogos & derivados
Proteínas Inativadoras do Complemento 1/deficiência
[Mh] Termos MeSH secundário: Angioedemas Hereditários/patologia
Bradicinina/metabolismo
Bradicinina/uso terapêutico
Permeabilidade Capilar/genética
Permeabilidade Capilar/fisiologia
Proteínas Inativadoras do Complemento 1/genética
Proteína Inibidora do Complemento C1
Predisposição Genética para Doença/genética
Seres Humanos
Receptores da Bradicinina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Bradykinin Receptor Antagonists); 0 (Complement C1 Inactivator Proteins); 0 (Complement C1 Inhibitor Protein); 0 (Receptors, Bradykinin); 0 (SERPING1 protein, human); 7PG89G35Q7 (icatibant); S8TIM42R2W (Bradykinin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170927
[St] Status:MEDLINE
[do] DOI:10.1159/000479839


  2 / 1940 MEDLINE  
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[PMID]:28662509
[Au] Autor:Aygören-Pürsün E; Soteres D; Moldovan D; Christensen J; Van Leerberghe A; Hao J; Schranz J; Jacobson KW; Martinez-Saguer I
[Ad] Endereço:Department for Children and Adolescents, Angioedema Centre, University Hospital Frankfurt, Goethe University, Frankfurt, Germany.
[Ti] Título:Preventing Hereditary Angioedema Attacks in Children Using Cinryze®: Interim Efficacy and Safety Phase 3 Findings.
[So] Source:Int Arch Allergy Immunol;173(2):114-119, 2017.
[Is] ISSN:1423-0097
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hereditary angioedema (HAE) is a rare genetic disease causing unpredictable and potentially life-threatening subcutaneous and submucosal edematous attacks. Cinryze® (Shire ViroPharma Inc., Lexington, MA, USA), a nanofiltered C1 inhibitor (C1-INH), is approved in Europe for the treatment, preprocedure prevention, and routine prophylaxis of HAE attacks, and for the routine prophylaxis of attacks in the USA. This phase 3 study assessed the safety and efficacy of 2 C1-INH doses in preventing attacks in children aged 6-11 years. METHODS: A randomized single-blind crossover study was initiated in March 2014. Results for the first 6 patients completing the study are reported here. After a 12-week qualifying observation period, patients were randomly assigned to 1 of 2 C1-INH doses, 500 or 1,000 U, every 3-4 days for 12 weeks and crossed over to the alternative dose for a second 12-week period. The primary efficacy endpoint was the number of angioedema attacks per month. RESULTS: Six females with HAE type I and a median age of 10.5 years received 2 doses of C1-INH (500 and 1,000 U). The mean (SD) difference in the number of monthly angioedema attacks between the baseline observation period and the treatment period was -1.89 (1.31) with 500 U and -1.89 (1.11) with 1,000 U. During the treatment periods, cumulative attack severity, cumulative daily severity, and the number of attacks needing acute treatment were lower. No serious adverse events or study drug discontinuations occurred. CONCLUSIONS: Interim findings from this study indicate that routine prevention with intravenous administration of C1-INH is efficacious, safe, and well tolerated in children ≥6 years of age.
[Mh] Termos MeSH primário: Angioedemas Hereditários/tratamento farmacológico
Proteínas Inativadoras do Complemento 1/uso terapêutico
[Mh] Termos MeSH secundário: Criança
Proteínas Inativadoras do Complemento 1/efeitos adversos
Proteína Inibidora do Complemento C1
Estudos Cross-Over
Feminino
Seres Humanos
Infusões Intravenosas
Método Simples-Cego
Resultado do Tratamento
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE III; JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Complement C1 Inactivator Proteins); 0 (Complement C1 Inhibitor Protein); 0 (SERPING1 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170630
[St] Status:MEDLINE
[do] DOI:10.1159/000477541


  3 / 1940 MEDLINE  
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[PMID]:28359783
[Au] Autor:Grodecká L; Hujová P; Kramárek M; Krsjaková T; Kovácová T; Vondrásková K; Ravcuková B; Hrncírová K; Soucek P; Freiberger T
[Ad] Endereço:Central European Institute of Technology, Masaryk University, Brno, Czech Republic; Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
[Ti] Título:Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
[So] Source:Clin Immunol;180:33-44, 2017 Jul.
[Is] ISSN:1521-7035
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Both variants affecting splice sites and those in splicing regulatory elements (SREs) can impair pre-mRNA splicing, eventually leading to severe diseases. Despite the availability of many prediction tools, prognosis of splicing affection is not trivial, especially when SREs are involved. Here, we present data on 92 in silico-/55 minigene-analysed variants detected in genes responsible for the primary immunodeficiencies development (namely BTK, CD40LG, IL2RG, SERPING1, STAT3, and WAS). Of 20 splicing-affecting variants, 16 affected splice site while 4 disrupted potential SRE. The presence or absence of splicing defects was confirmed in 30 of 32 blood-derived patients' RNAs. Testing prediction tools performance, splice site disruptions and creations were reliably predicted in contrast to SRE-affecting variants for which just ESRseq, ΔHZ -scores and EX-SKIP predictions showed promising results. Next, we found an interesting pattern in cryptic splice site predictions. These results might help PID-diagnosticians and geneticists cope with potential splicing-affecting variants.
[Mh] Termos MeSH primário: Síndromes de Imunodeficiência/genética
Processamento de RNA
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Proteínas Inativadoras do Complemento 1/genética
Proteína Inibidora do Complemento C1
Éxons
Células HeLa
Células Hep G2
Seres Humanos
Lactente
Subunidade gama Comum de Receptores de Interleucina/genética
Mutação
Proteínas Tirosina Quinases/genética
RNA Mensageiro/genética
Proteínas Recombinantes de Fusão/genética
Fator de Transcrição STAT3/genética
Células U937
Proteína da Síndrome de Wiskott-Aldrich/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CD40LIg fusion protein); 0 (Complement C1 Inactivator Proteins); 0 (Complement C1 Inhibitor Protein); 0 (IL2RG protein, human); 0 (Interleukin Receptor Common gamma Subunit); 0 (RNA, Messenger); 0 (Recombinant Fusion Proteins); 0 (SERPING1 protein, human); 0 (STAT3 Transcription Factor); 0 (STAT3 protein, human); 0 (WAS protein, human); 0 (Wiskott-Aldrich Syndrome Protein); EC 2.7.10.1 (Agammaglobulinaemia tyrosine kinase); EC 2.7.10.1 (Protein-Tyrosine Kinases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170401
[St] Status:MEDLINE


  4 / 1940 MEDLINE  
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[PMID]:28291095
[Au] Autor:LoVerde D; Files DC; Krishnaswamy G
[Ad] Endereço:1Division of Pulmonary, Critical Care, Allergy and Immunology, Department of Medicine, Wake Forest Baptist Medical Center, Winston-Salem, NC.2Division of Allergy and Clinical Immunology, Department of Medicine, W.G. (Bill) Hefner VA Medical Center, Salisbury, NC.
[Ti] Título:Angioedema.
[So] Source:Crit Care Med;45(4):725-735, 2017 Apr.
[Is] ISSN:1530-0293
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Angioedema is a potentially life-threatening occurrence that is encountered by critical care providers. The mechanistic understanding of angioedema syndromes has improved in recent years, and novel medications are available that improve outcomes from these syndromes. This clinically focused review will describe the underlying genetics, pathophysiology, classification and treatment of angioedema syndromes, with an emphasis on the novel pharmacologic agents that have recently become available for acute treatment. DATA SOURCES: A MEDLINE search was conducted with the MeSH terms angioedema, acquired angioedema, hereditary angioedema type III, and angiotensin converting enzyme inhibitor-induced angioedema. STUDY SELECTION: Selected publications describing angioedema, clinical trials, diagnosis, management, and genetics were retrieved (reviews, guidelines, clinical trials, case series), and their bibliographies were also reviewed to identify relevant publications. DATA EXTRACTION: Data from the relevant publications were reviewed, summarized and the information synthesized. DATA SYNTHESIS: The data obtained were used to describe the current state of diagnosis and management of various angioedema syndromes. CONCLUSIONS: Angioedema is a life-threatening syndrome with multiple subtypes, each with a distinct pathophysiology. We present an evidence-based approach to the diagnosis and suggested management of various subtypes of angioedema. Securing the airway remains the most important intervention, followed by administration of both established and more novel pharmacologic interventions based on disease pathology.
[Mh] Termos MeSH primário: Manuseio das Vias Aéreas
Angioedema/classificação
Angioedema/terapia
[Mh] Termos MeSH secundário: Angioedema/diagnóstico
Angioedema/genética
Bradicinina/análogos & derivados
Bradicinina/uso terapêutico
Antagonistas de Receptor B2 da Bradicinina/uso terapêutico
Proteínas Inativadoras do Complemento 1/uso terapêutico
Proteína Inibidora do Complemento C1/uso terapêutico
Cuidados Críticos
Seres Humanos
Calicreínas/antagonistas & inibidores
Peptídeos/uso terapêutico
Proteínas Recombinantes/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Bradykinin B2 Receptor Antagonists); 0 (Complement C1 Inactivator Proteins); 0 (Complement C1 Inhibitor Protein); 0 (Peptides); 0 (Recombinant Proteins); 0 (SERPING1 protein, human); 0 (conestat alpha); 5Q6TZN2HNM (ecallantide); 7PG89G35Q7 (icatibant); EC 3.4.21.- (Kallikreins); S8TIM42R2W (Bradykinin)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170315
[St] Status:MEDLINE
[do] DOI:10.1097/CCM.0000000000002281


  5 / 1940 MEDLINE  
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[PMID]:28289183
[Au] Autor:Mossberg M; Ståhl AL; Kahn R; Kristoffersson AC; Tati R; Heijl C; Segelmark M; Leeb-Lundberg LMF; Karpman D
[Ad] Endereço:Departments of Pediatrics and.
[Ti] Título:C1-Inhibitor Decreases the Release of Vasculitis-Like Chemotactic Endothelial Microvesicles.
[So] Source:J Am Soc Nephrol;28(8):2472-2481, 2017 Aug.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The kinin system is activated during vasculitis and may contribute to chronic inflammation. C1-inhibitor is the main inhibitor of the kinin system. In this study, we investigated the presence of the kinin B1 receptor on endothelial microvesicles and its contribution to the inflammatory process. Compared with controls ( =15), patients with acute vasculitis ( =12) had markedly higher levels of circulating endothelial microvesicles, identified by flow cytometry analysis, and significantly more microvesicles that were positive for the kinin B1 receptor ( <0.001). Compared with microvesicles from wild-type cells, B1 receptor-positive microvesicles derived from transfected human embryonic kidney cells induced a significant neutrophil chemotactic effect, and a B1 receptor antagonist blocked this effect. Likewise, patient plasma induced neutrophil chemotaxis, an effect decreased by reduction of microvesicle levels and by blocking the B1 receptor. We used a perfusion system to study the effect of patient plasma ( =6) and control plasma ( =6) on the release of microvesicles from glomerular endothelial cells. Patient samples induced the release of significantly more B1 receptor-positive endothelial microvesicles than control samples, an effect abrogated by reduction of the microvesicles in the perfused samples. Perfusion of C1-inhibitor-depleted plasma over glomerular endothelial cells promoted excessive release of B1 receptor-positive endothelial microvesicles compared with normal plasma, an effect significantly decreased by addition of C1-inhibitor or B1 receptor-antagonist. Thus, B1 receptor-positive endothelial microvesicles may contribute to chronic inflammation by inducing neutrophil chemotaxis, and the reduction of these microvesicles by C1-inhibitor should be explored as a potential treatment for neutrophil-induced inflammation.
[Mh] Termos MeSH primário: Micropartículas Derivadas de Células/fisiologia
Proteínas Inativadoras do Complemento 1/fisiologia
Vasculite/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Quimiotaxia
Criança
Proteína Inibidora do Complemento C1
Endotélio Vascular/citologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Complement C1 Inactivator Proteins); 0 (Complement C1 Inhibitor Protein); 0 (SERPING1 protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170315
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2016060637


  6 / 1940 MEDLINE  
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[PMID]:28222436
[Au] Autor:Triggianese P; Guarino MD; Pellicano C; Borzi M; Greco E; Modica S; De Carolis C; Perricone R
[Ad] Endereço:Rheumatology, Allergology and Clinical Immunology, Department of "Medicina dei Sistemi", University of Rome Tor Vergata, Rome, Italy.
[Ti] Título:Recurrent Angioedema: Occurrence, Features, and Concomitant Diseases in an Italian Single-Center Study.
[So] Source:Int Arch Allergy Immunol;172(1):55-63, 2017.
[Is] ISSN:1423-0097
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Angioedema (AE) is a potentially life-threatening condition with hereditary (HAE), acquired (AAE), or iatrogenic causes. A careful workup allows for the identification of the etiology of attacks and the appropriate management. In this cohort study, based on a clinical practice setting, we aimed at investigating clinical and laboratory findings concerning different features of patients with recurrent AE who were referred to a single, tertiary-level center for HAE. METHODS: Clinical and laboratory data of patients fulfilling the criteria for C1-inhibitor-deficient HAE (C1-INH-HAE), C1-INH-AAE, angiotensin-converting enzyme inhibitor-related AE (ACEI-RA), and idiopathic AAE (I-AAE) were evaluated. Descriptive statistics were analyzed by means of the Mann-Whitney U test. The Fisher exact test was used for group comparisons. RESULTS: Patients were diagnosed with type 1 HAE (n = 14), type 2 HAE (n = 1), C1-INH-AAE (n = 8), ACEI-RA (n = 16), or I-AAE (n = 26). We included only patients with concomitant autoimmune diseases from the I-AAE group (n = 8, aut-I-AAE). Age at disease onset and at diagnosis was younger in type 1 HAE than in all the other groups. The diagnostic delay was longer in type 1 HAE than in ACEI-RA. C4 and C1q levels were lower in C1-INH-AAE than in type 1 HAE, ACEI-RA, and aut-I-AAE. Both HAE and C1-INH-AAE showed lower C1-INH antigen and function compared to the other groups. Peripheral attacks were more frequent in type 1 HAE, while airway, abdominal, and oral attacks were prevalent in C1-INH-AAE. CONCLUSION: Investigating the clinical and laboratory features of recurrent AE without wheals represents a major topic for facilitating early diagnosis and improving treatment strategies for this heterogeneous and misdiagnosed condition.
[Mh] Termos MeSH primário: Angioedemas Hereditários/diagnóstico
Angioedemas Hereditários/patologia
Inibidores da Enzima Conversora de Angiotensina/metabolismo
Bradicinina/sangue
Proteína Inibidora do Complemento C1/metabolismo
[Mh] Termos MeSH secundário: Angioedemas Hereditários/tratamento farmacológico
Angioedemas Hereditários/etiologia
Estudos de Coortes
Proteínas Inativadoras do Complemento 1/genética
Diagnóstico Precoce
Seres Humanos
Itália
Recidiva
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Angiotensin-Converting Enzyme Inhibitors); 0 (Complement C1 Inactivator Proteins); 0 (Complement C1 Inhibitor Protein); 0 (SERPING1 protein, human); S8TIM42R2W (Bradykinin)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170327
[Lr] Data última revisão:
170327
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170222
[St] Status:MEDLINE
[do] DOI:10.1159/000453663


  7 / 1940 MEDLINE  
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[PMID]:28222330
[Au] Autor:Charignon D; Ghannam A; Ponard D; Drouet C
[Ad] Endereço:GREPI, UE7408 Université Grenoble Alpes, Grenoble, France. Electronic address: delphine.charignon@kininx.com.
[Ti] Título:Hereditary C1 inhibitor deficiency is associated with high spontaneous amidase activity.
[So] Source:Mol Immunol;85:120-122, 2017 May.
[Is] ISSN:1872-9142
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Angioedema diagnosis classically targets the complement system (via C1 inhibitor (C1Inh) function and antigenic C4 level) and contact phase activation (via amidase activity). Bradykinin is responsible for angioedema attacks and is produced from contact phase activation secondary to failed C1Inh control. OBJECTIVE: We aimed to compare the diagnostic performances of spontaneous amidase activity and antigenic C4 level in C1Inh hereditary angioedema (C1Inh-HAE) patients. METHODS: Samples from 185 C1Inh-HAE patients (81 men, 104 women; confirmed by SERPING1 gene mutations) and from 99 blood donors (50 men, 49 women) were tested for C1Inh function, antigenic C4 level and spontaneous amidase activity. RESULTS: In the C1Inh-HAE group, antigenic C4 level was decreased (n=135) and amidase activity was increased (n=181). Receiver operating characteristic analyses showed higher diagnostic performance values for the spontaneous amidase assay compared to those of antigenic C4. CONCLUSION: The spontaneous amidase activity assay should replace antigenic C4 level testing and should be tested alongside the C1Inh function for both AE screening and follow up of HAE patients.
[Mh] Termos MeSH primário: Amidoidrolases/sangue
Angioedemas Hereditários/sangue
Angioedemas Hereditários/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Angioedemas Hereditários/genética
Área Sob a Curva
Criança
Proteínas Inativadoras do Complemento 1/genética
Proteína Inibidora do Complemento C1
Feminino
Seres Humanos
Masculino
Meia-Idade
Mutação
Curva ROC
Sensibilidade e Especificidade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Complement C1 Inactivator Proteins); 0 (Complement C1 Inhibitor Protein); 0 (SERPING1 protein, human); EC 3.5.- (Amidohydrolases); EC 3.5.1.4 (amidase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170222
[St] Status:MEDLINE


  8 / 1940 MEDLINE  
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[PMID]:28194776
[Au] Autor:Steiner UC; Keller M; Schmid P; Cichon S; Wuillemin WA
[Ad] Endereço:Department of Clinical Immunology, University Hospital Zurich, Zurich, Switzerland.
[Ti] Título:Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
[So] Source:Clin Exp Immunol;188(3):430-436, 2017 Jun.
[Is] ISSN:1365-2249
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease caused by mutations in the C1 inhibitor gene SERPING1. Phenotype and clinical features of the disease are extremely heterogeneous, varying even within the same family. Compared to HAE cohorts in other countries, the genetic background of the Swiss HAE patients has not yet been elucidated. In the present study we investigated the mutational spectrum of the SERPING1 gene in 19 patients of nine unrelated Swiss families. The families comprise a total of 111 HAE-affected subjects which corresponds to approximately 70% of all HAE-affected patients living in Switzerland. Three of the identified mutations are newly described. Members of family A with a nucleotide duplication as genetic background seem to have a more intense disease manifestation with a higher attack frequency compared to the other families. Newly designed genetic screening tests allow a fast and cost-efficient testing for HAE in other family members.
[Mh] Termos MeSH primário: Angioedemas Hereditários/diagnóstico
Angioedemas Hereditários/genética
Proteínas Inativadoras do Complemento 1/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Proteína Inibidora do Complemento C1
Saúde da Família
Feminino
Genótipo
Seres Humanos
Masculino
Meia-Idade
Mutação
Fenótipo
Suíça
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Complement C1 Inactivator Proteins); 0 (Complement C1 Inhibitor Protein); 0 (SERPING1 protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170215
[St] Status:MEDLINE
[do] DOI:10.1111/cei.12941


  9 / 1940 MEDLINE  
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[PMID]:27986601
[Au] Autor:Ding M; Chen M; Zhong X; Wang Y; Fu S; Yin X; Guo Z; Ye J
[Ad] Endereço:Guangdong Provincial Key Laboratory for Health and Safe Aquaculture, Guangdong Provincial Engineering Technology Research Center for Environmentally-Friendly Aquaculture, College of Life Science, South China Normal University, Guangdong 510631, PR China.
[Ti] Título:Identification and characterization of C1 inhibitor in Nile tilapia (Oreochromis niloticus) in response to pathogenic bacteria.
[So] Source:Fish Shellfish Immunol;61:152-162, 2017 Feb.
[Is] ISSN:1095-9947
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:C1 inhibitor (C1INH) is a multi-functional serine protease inhibitor in plasmatic cascades, not only inactivating various proteases, but also regulating both complement and contact system activation. In this study, we described the identification and characterization of a C1INH ortholog from Nile tilapia (Oreochromis niloticus) at molecular, protein and cellular levels. The full-length cDNA of Oreochromis niloticus C1INH (OnC1INH) consisted of 1791 bp of nucleotide sequence encoding polypeptides of 596 amino acids. The deduced protein possessed a serpin domain at the C-terminal domain, and two Ig-like domains in the N-terminal domain with significant homology to teleost. Expression analysis revealed that the OnC1INH was extremely highly expressed in the liver; however, much weakly exhibited in other tissues including spleen, kidney, blood and heart. After the in vivo challenges of the lipopolysaccharide (LPS) and Streptococcus agalactiae, the expression of OnC1INH was significantly up-regulated in liver and spleen at the late phase, which was confirmed at the protein level with immunohistochemical analysis. The up-regulation of OnC1INH expression was also demonstrated in head kidney monocytes/macrophages in vitro stimulated with LPS, Aeromonas hydrophila and Streptococcus agalactiae, which was positively correlated with the protein expression pattern in the culture media. Taken together, the results of this study indicated that OnC1INH might be involved in the immune response of Nile tilapia against to bacterial challenge.
[Mh] Termos MeSH primário: Ciclídeos
Proteínas Inativadoras do Complemento 1/genética
Doenças dos Peixes/genética
Proteínas de Peixes/genética
Infecções por Bactérias Gram-Negativas/veterinária
Infecções Estreptocócicas/veterinária
[Mh] Termos MeSH secundário: Aeromonas hydrophila/fisiologia
Sequência de Aminoácidos
Animais
Clonagem Molecular
Proteínas Inativadoras do Complemento 1/química
Proteínas Inativadoras do Complemento 1/metabolismo
DNA Complementar/genética
DNA Complementar/metabolismo
Doenças dos Peixes/imunologia
Doenças dos Peixes/microbiologia
Proteínas de Peixes/química
Proteínas de Peixes/metabolismo
Infecções por Bactérias Gram-Negativas/genética
Infecções por Bactérias Gram-Negativas/imunologia
Infecções por Bactérias Gram-Negativas/microbiologia
Lipopolissacarídeos/fisiologia
Filogenia
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Alinhamento de Sequência/veterinária
Infecções Estreptocócicas/genética
Infecções Estreptocócicas/imunologia
Infecções Estreptocócicas/microbiologia
Streptococcus agalactiae/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Complement C1 Inactivator Proteins); 0 (DNA, Complementary); 0 (Fish Proteins); 0 (Lipopolysaccharides); 0 (RNA, Messenger)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170410
[Lr] Data última revisão:
170410
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161218
[St] Status:MEDLINE


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Fotocópia
[PMID]:27940765
[Au] Autor:Frank MM; Zuraw B; Banerji A; Bernstein JA; Craig T; Busse P; Christiansen S; Davis-Lorton M; Li HH; Lumry WR; Riedl M; US Hereditary Angioedema Association Medical Advisory Board
[Ad] Endereço:Duke University Medical Center, Durham, North Carolina; frank007@mc.duke.edu.
[Ti] Título:Management of Children With Hereditary Angioedema Due to C1 Inhibitor Deficiency.
[So] Source:Pediatrics;138(5), 2016 Nov.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Hereditary angioedema (HAE) is a potentially life-threatening inherited disease characterized by attacks of skin swelling, severe abdominal pain, and upper airway swelling. Attacks typically begin in childhood, but the appropriate diagnosis is often missed. Attacks do not respond to epinephrine, antihistamines, or glucocorticoids. Recently, many effective drugs have been approved for treatment of adults with HAE, and the Medical Advisory Board of the HAE Patient's Association has developed and reported treatment recommendations for adults. Only 1 medication is approved for treatment of children <12 years of age, and there are no reported consensus recommendations for treatment of young children in the United States. The 11-member Medical Advisory Board, with extensive experience in the treatment of children, in concert with the leaders of the HAE Patient's Association, has developed these consensus recommendations to help in recognition, diagnosis, treatment of attacks, and prophylaxis of children with HAE.
[Mh] Termos MeSH primário: Angioedemas Hereditários/tratamento farmacológico
Angioedemas Hereditários/prevenção & controle
[Mh] Termos MeSH secundário: Adolescente
Angioedemas Hereditários/diagnóstico
Anti-Inflamatórios não Esteroides/uso terapêutico
Antifibrinolíticos/uso terapêutico
Bradicinina/análogos & derivados
Bradicinina/uso terapêutico
Criança
Proteínas Inativadoras do Complemento 1/uso terapêutico
Proteína Inibidora do Complemento C1/uso terapêutico
Danazol/efeitos adversos
Testes Genéticos
Seres Humanos
Equipe de Assistência ao Paciente
Educação de Pacientes como Assunto
Peptídeos/uso terapêutico
Proteínas Recombinantes/uso terapêutico
Ácido Tranexâmico/uso terapêutico
[Pt] Tipo de publicação:CONSENSUS DEVELOPMENT CONFERENCE; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Inflammatory Agents, Non-Steroidal); 0 (Antifibrinolytic Agents); 0 (Complement C1 Inactivator Proteins); 0 (Complement C1 Inhibitor Protein); 0 (Peptides); 0 (Recombinant Proteins); 0 (SERPING1 protein, human); 0 (conestat alpha); 5Q6TZN2HNM (ecallantide); 6T84R30KC1 (Tranexamic Acid); 7PG89G35Q7 (icatibant); N29QWW3BUO (Danazol); S8TIM42R2W (Bradykinin)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161213
[St] Status:MEDLINE



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