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Pesquisa : C14.907.079.500.750 [Categoria DeCS]
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[PMID]:28465053
[Au] Autor:Martinez Saguer I; Escuriola Ettingshausen C
[Ad] Endereço:Haemophilia Centre Rhine Main GmbH, Frankfurt-Mörfelden, Germany. Electronic address: inmaculada.martinez@hzrm.de.
[Ti] Título:Successful management of hereditary angioedema during pregnancy in a patient with heterozygous MTHFR mutation.
[So] Source:Ann Allergy Asthma Immunol;118(6):734-735, 2017 Jun.
[Is] ISSN:1534-4436
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Proteína Inibidora do Complemento C1/uso terapêutico
Angioedema Hereditário Tipos I e II/tratamento farmacológico
Complicações na Gravidez/tratamento farmacológico
[Mh] Termos MeSH secundário: Adulto
Anticoagulantes/uso terapêutico
Feminino
Heparina de Baixo Peso Molecular/uso terapêutico
Angioedema Hereditário Tipos I e II/genética
Seres Humanos
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética
Mutação
Gravidez
Complicações na Gravidez/genética
Trombose/prevenção & controle
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticoagulants); 0 (Complement C1 Inhibitor Protein); 0 (Heparin, Low-Molecular-Weight); EC 1.5.1.20 (MTHFR protein, human); EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2))
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171212
[Lr] Data última revisão:
171212
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE


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[PMID]:28668241
[Au] Autor:Riedl MA; Banerji A; Busse PJ; Johnston DT; Davis-Lorton MA; Patel S; Parr H; Chiao J; Watson DJ; Burrell E; Machnig T
[Ad] Endereço:University of California-San Diego, La Jolla, California. Electronic address: marcriedl@yahoo.com.
[Ti] Título:Patient satisfaction and experience with intravenously administered C1-inhibitor concentrates in the United States.
[So] Source:Ann Allergy Asthma Immunol;119(1):59-64, 2017 Jul.
[Is] ISSN:1534-4436
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hereditary angioedema (HAE) is a rare genetic disorder with substantial morbidity and mortality. Despite expanded choices for effective acute treatment, prophylactic options are more limited. Intravenous C1 esterase inhibitor (C1-INH[IV]) is licensed and used to prevent HAE symptoms. OBJECTIVE: To better understand patient experiences with using C1-INH(IV), including level of satisfaction and types and frequency of complications. METHODS: Fifty adult members (≥18 years of age) of the US HAE Association who had HAE type I or II completed a self-administered internet survey. Eligible participants were experiencing at least 1 HAE attack per month and must have been receiving treatment with C1-INH(IV) as prophylaxis or acute therapy. RESULTS: Almost all respondents (n = 47; 94%) were using C1-INH(IV) for HAE prophylaxis. Most patients reported administration of C1-INH(IV) through a peripheral vein (n = 34) and 19 were currently (n = 17) or previously (n = 2) using a central venous port. Most respondents (62%) who used a peripheral vein to administer treatment reported having difficulty finding a usable vein or getting the infusion to work properly at least some of the time. Issues accessing veins, exhausted veins, and frequency of attacks were the main reasons physicians recommended ports to respondents. Although ports allow easier administration of therapy, 47% of respondents with ports experienced problems such as occlusion, thrombosis, and infection. Respondents using C1-INH prophylaxis reported a mean of 2.3 attacks per month during the previous 6 months. CONCLUSION: The survey results identified clinical challenges with IV HAE medication use, including venous access issues and ongoing monthly attack occurrence despite prophylactic C1-INH(IV) administration.
[Mh] Termos MeSH primário: Proteína Inibidora do Complemento C1/administração & dosagem
Angioedema Hereditário Tipos I e II/epidemiologia
Angioedema Hereditário Tipos I e II/terapia
Satisfação do Paciente
[Mh] Termos MeSH secundário: Administração Intravenosa
Adolescente
Adulto
Idoso
Proteína Inibidora do Complemento C1/efeitos adversos
Progressão da Doença
Feminino
Pesquisas sobre Serviços de Saúde
Angioedema Hereditário Tipos I e II/diagnóstico
Angioedema Hereditário Tipos I e II/prevenção & controle
Seres Humanos
Infusões Intravenosas
Masculino
Meia-Idade
Fenótipo
Pré-Medicação
Resultado do Tratamento
Estados Unidos/epidemiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Complement C1 Inhibitor Protein)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170807
[Lr] Data última revisão:
170807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170703
[St] Status:MEDLINE


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[PMID]:28328347
[Au] Autor:Longhurst H; Cicardi M; Craig T; Bork K; Grattan C; Baker J; Li HH; Reshef A; Bonner J; Bernstein JA; Anderson J; Lumry WR; Farkas H; Katelaris CH; Sussman GL; Jacobs J; Riedl M; Manning ME; Hebert J; Keith PK; Kivity S; Neri S; Levy DS; Baeza ML; Nathan R; Schwartz LB; Caballero T; Yang W; Crisan I; Hernandez MD; Hussain I; Tarzi M; Ritchie B; Králícková P; Guilarte M; Rehman SM; Banerji A; Gower RG; Bensen-Kennedy D; Edelman J; Feuersenger H; Lawo JP; Machnig T; Pawaskar D; Pragst I; Zuraw BL; COMPACT Investigators
[Ad] Endereço:From Barts Health NHS Trust (H.L.) and St. John's Institute of Dermatology, Guy's Hospital (C.G.), London, and the Clinical Investigation and Research Unit, Royal Sussex County Hospital, Brighton (M.T.) - all in the United Kingdom; Ospedale Luigi Sacco-U.O. Medicina Generale, Milan (M.C.), and the D
[Ti] Título:Prevention of Hereditary Angioedema Attacks with a Subcutaneous C1 Inhibitor.
[So] Source:N Engl J Med;376(12):1131-1140, 2017 03 23.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hereditary angioedema is a disabling, potentially fatal condition caused by deficiency (type I) or dysfunction (type II) of the C1 inhibitor protein. In a phase 2 trial, the use of CSL830, a nanofiltered C1 inhibitor preparation that is suitable for subcutaneous injection, resulted in functional levels of C1 inhibitor activity that would be expected to provide effective prophylaxis of attacks. METHODS: We conducted an international, prospective, multicenter, randomized, double-blind, placebo-controlled, dose-ranging, phase 3 trial to evaluate the efficacy and safety of self-administered subcutaneous CSL830 in patients with type I or type II hereditary angioedema who had had four or more attacks in a consecutive 2-month period within 3 months before screening. We randomly assigned the patients to one of four treatment sequences in a crossover design, each involving two 16-week treatment periods: either 40 IU or 60 IU of CSL830 per kilogram of body weight twice weekly followed by placebo, or vice versa. The primary efficacy end point was the number of attacks of angioedema. Secondary efficacy end points were the proportion of patients who had a response (≥50% reduction in the number of attacks with CSL830 as compared with placebo) and the number of times that rescue medication was used. RESULTS: Of the 90 patients who underwent randomization, 79 completed the trial. Both doses of CSL830, as compared with placebo, reduced the rate of attacks of hereditary angioedema (mean difference with 40 IU, -2.42 attacks per month; 95% confidence interval [CI], -3.38 to -1.46; and mean difference with 60 IU, -3.51 attacks per month; 95% CI, -4.21 to -2.81; P<0.001 for both comparisons). Response rates were 76% (95% CI, 62 to 87) in the 40-IU group and 90% (95% CI, 77 to 96) in the 60-IU group. The need for rescue medication was reduced from 5.55 uses per month in the placebo group to 1.13 uses per month in the 40-IU group and from 3.89 uses in the placebo group to 0.32 uses per month in the 60-IU group. Adverse events (most commonly mild and transient local site reactions) occurred in similar proportions of patients who received CSL830 and those who received placebo. CONCLUSIONS: In patients with hereditary angioedema, the prophylactic use of a subcutaneous C1 inhibitor twice weekly significantly reduced the frequency of acute attacks. (Funded by CSL Behring; COMPACT EudraCT number, 2013-000916-10 , and ClinicalTrials.gov number, NCT01912456 .).
[Mh] Termos MeSH primário: Proteína Inibidora do Complemento C1/administração & dosagem
Angioedema Hereditário Tipos I e II/prevenção & controle
[Mh] Termos MeSH secundário: Adulto
Proteína Inibidora do Complemento C1/efeitos adversos
Proteína Inibidora do Complemento C1/metabolismo
Estudos Cross-Over
Relação Dose-Resposta a Droga
Método Duplo-Cego
Feminino
Angioedema Hereditário Tipos I e II/classificação
Seres Humanos
Injeções Subcutâneas
Masculino
Risco
Autoadministração
Índice de Gravidade de Doença
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE III; JOURNAL ARTICLE; MULTICENTER STUDY; RANDOMIZED CONTROLLED TRIAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Complement C1 Inhibitor Protein)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170727
[Lr] Data última revisão:
170727
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170323
[Cl] Clinical Trial:ClinicalTrial
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMoa1613627


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[PMID]:28284978
[Au] Autor:Bernstein JA; Relan A; Harper JR; Riedl M
[Ad] Endereço:Division of Immunology, Allergy and Rheumatology, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: bernstja@ucmail.uc.edu.
[Ti] Título:Sustained response of recombinant human C1 esterase inhibitor for acute treatment of hereditary angioedema attacks.
[So] Source:Ann Allergy Asthma Immunol;118(4):452-455, 2017 Apr.
[Is] ISSN:1534-4436
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Symptoms of hereditary angioedema (HAE) attacks can recur soon after initial treatment; the durability of response for recombinant human C1 esterase inhibitor (rhC1INH) treatment is unknown. OBJECTIVE: To examine the efficacy and durability of rhC1INH for acute HAE attacks. METHODS: In this pooled post hoc analysis of 2 trials, patients with type I or II HAE (functional C1INH levels <50% of normal) and a baseline visual analog scale score of at least 50 mm were included if they had received at least 1 intravenous dose of 50 IU/kg of rhC1INH. Response was defined as symptom relief within 4 hours after treatment with persistence (≥20-mm decrease in visual analog scale scores [0 mm {"no symptoms at all"} to 100 mm {"extremely disabling"}] at 2 consecutive time points) during the 4 hours. Durability was the response without an increase of at least 20 mm in the minimum post-treatment visual analog scale score up to 24 hours. Recurrence and new attack symptoms were determined for patients with 72-hour post-treatment data. RESULTS: Data were analyzed for 127 patients treated with 50 IU/kg of rhC1INH in 2 studies. Most attacks (90.7%) responded within 4 hours, with differences in response rates among attack locations (61.5%-94.4%). The median time to the beginning of symptom relief was 75.0 minutes (95% confidence interval 65.0-80.0). No relapse occurred during 24 hours for attacks that initially responded. Only 7.1% of attacks were associated with symptom recurrence within 72 hours of initial rhC1INH treatment. CONCLUSION: This integrated analysis supports the efficacy of rhC1INH for treatment of acute HAE across multiple attacks, with a sustained response for at least 3 days. TRIAL REGISTRATION: ClinicalTrials.gov Identifiers: NCT00225147 and NCT00262301.
[Mh] Termos MeSH primário: Proteína Inibidora do Complemento C1/uso terapêutico
Angioedema Hereditário Tipos I e II/tratamento farmacológico
Proteínas Recombinantes/uso terapêutico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Proteína Inibidora do Complemento C1/administração & dosagem
Progressão da Doença
Feminino
Seres Humanos
Masculino
Meia-Idade
Proteínas Recombinantes/administração & dosagem
Recidiva
Tempo para o Tratamento
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Complement C1 Inhibitor Protein); 0 (Recombinant Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170804
[Lr] Data última revisão:
170804
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170313
[St] Status:MEDLINE


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[PMID]:28283277
[Au] Autor:Tse KY; Zuraw BL; Chen Q; Christiansen SC
[Ad] Endereço:Department of Allergy, Kaiser Permanente Medical Center, San Diego, California. Electronic address: kevin.y.tse@kp.org.
[Ti] Título:Anabolic androgen use in the management of hereditary angioedema: Not so cheap after all.
[So] Source:Ann Allergy Asthma Immunol;118(4):456-460.e1, 2017 Apr.
[Is] ISSN:1534-4436
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hereditary angioedema due to C1 inhibitor deficiency (HAE) is a rare, life-threatening disease that imposes a significant burden on affected patients. 17α-alkylated androgens (anabolic androgens) decrease attack frequency and severity but carry the risk of potentially serious dose-related adverse effects. Despite the emergence of targeted therapies for HAE, continued anabolic androgen use has been driven in part by their low cost. OBJECTIVE: To examine the hidden cost of anabolic androgen use related to the risk of developing non-HAE comorbidities. METHODS: Patients with HAE were identified in the Southern California Kaiser Permanente database using clinical and laboratory findings compatible with HAE. These patients were stratified into anabolic androgen exposed and nonexposed groups. Matched controls were selected from the Kaiser database who did not have HAE or anabolic androgen exposure. Using multivariate analysis, we determined the number of non-HAE comorbidities linked to anabolic androgen use. We next determined the association between dosing and increasing exposure to anabolic androgens and the likelihood of having various comorbidities. RESULTS: Patients with HAE exposed to anabolic androgens had a 28% increase (P = .04) in non-HAE comorbidities when compared with their matched (nonexposed) controls. With each gram per month increase in exposure, a 12% increase in non-HAE comorbidities is observed (P < .01). The most commonly occurring non-HAE comorbidities were psychiatric, muscle cramps, obesity, and hyperlipidemia. CONCLUSION: Our data suggest that long-term anabolic androgen use enhances the risk of developing comorbid health conditions, thus amplifying the cost of care. Our report provides additional support for the preferred use of newer, targeted therapies for the management of HAE.
[Mh] Termos MeSH primário: Anabolizantes/uso terapêutico
Androgênios/uso terapêutico
Angioedema Hereditário Tipos I e II/tratamento farmacológico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Anabolizantes/administração & dosagem
Anabolizantes/efeitos adversos
Anabolizantes/economia
Androgênios/administração & dosagem
Androgênios/efeitos adversos
Androgênios/economia
Estudos de Casos e Controles
Criança
Pré-Escolar
Comorbidade
Proteína Inibidora do Complemento C1/economia
Proteína Inibidora do Complemento C1/uso terapêutico
Custos de Medicamentos
Feminino
Angioedema Hereditário Tipos I e II/diagnóstico
Seres Humanos
Incidência
Lactente
Recém-Nascido
Masculino
Meia-Idade
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anabolic Agents); 0 (Androgens); 0 (Complement C1 Inhibitor Protein)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170804
[Lr] Data última revisão:
170804
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170312
[St] Status:MEDLINE


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[PMID]:28093999
[Au] Autor:Weller K; Maurer M; Fridman M; Supina D; Schranz J; Magerl M
[Ti] Título:Health-related quality of life with hereditary angioedema following prophylaxis with subcutaneous C1-inhibitor with recombinant hyaluronidase.
[So] Source:Allergy Asthma Proc;38(2):143-151, 2017 Mar 16.
[Is] ISSN:1539-6304
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: To estimate health-related quality-of-life changes in patients with hereditary angioedema due to C1-inhibitor (C1-INH) deficiency who received subcutaneous C1-INH with recombinant hyaluronidase (rHuPH20) for attack prophylaxis in a randomized, double-blind, dose-ranging, cross-over study. METHODS: Patients with type I/II hereditary angioedema received 1000 U of C1-INH with 24,000 U of rHuPH20 or 2000 U of C1-INH with 48,000 U of rHuPH20 every 3-4 days for 8 weeks and then crossed over for another 8-week period. The study was terminated early as a precaution related to non-neutralizing antibodies to rHuPH20. The Angioedema Quality of Life questionnaire (AE-QoL) was administered at weeks 1 and 5 of both periods, and at 1 week after the second treatment period. Changes in AE-QoL scores were calculated over both treatment periods and within each treatment period for patients with ≥4 weeks of treatment. RESULTS: Forty-one patients had evaluable AE-QoL data, and 22 patients completed treatment. At screening, 43% of the patients were receiving intravenous C1-INH. A significant average AE-QoL total score decline (improvement) of -8.1 (95% confidence interval, -13.7 to -2.5) was observed from baseline to the end of the study, and significant AE-QoL score declines were observed in the Functioning, Fear/Shame, and Nutrition domains. Patients on 2000 U reported higher mean AE-QoL score declines in Functioning and Nutrition domains relative to the 1000 U dose. Overall, 43.9% of all the patients, 45.5% of the study completers, and 46.7% of the nonprophylaxis users at baseline on high treatment doses achieved a reduction in the AE-QoL total score of six points. CONCLUSION: Despite early termination and prestudy prophylactic intravenous C1-INH use by 43% of the patients, improved AE-QoL scores were observed after ≤16 weeks of subcutaneous C1-INH-rHuPH20 prophylaxis.
[Mh] Termos MeSH primário: Proteína Inibidora do Complemento C1/uso terapêutico
Inativadores do Complemento/uso terapêutico
Nível de Saúde
Angioedema Hereditário Tipos I e II/prevenção & controle
Hialuronoglucosaminidase/uso terapêutico
Qualidade de Vida
[Mh] Termos MeSH secundário: Administração Intravenosa
Adulto
Estudos Cross-Over
Método Duplo-Cego
Feminino
Seres Humanos
Infusões Subcutâneas
Masculino
Meia-Idade
Proteínas Recombinantes
Prevenção Secundária
Inquéritos e Questionários
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Complement C1 Inhibitor Protein); 0 (Complement Inactivating Agents); 0 (Recombinant Proteins); EC 3.2.1.35 (Hyaluronoglucosaminidase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170306
[Lr] Data última revisão:
170306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170118
[St] Status:MEDLINE
[do] DOI:10.2500/aap.2017.38.4025


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[PMID]:27350434
[Au] Autor:van Kester MS; Bergman W; Lavrijsen AP
[Ad] Endereço:Department of Dermatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
[Ti] Título:A Female with Hereditary Angioedema Developing Wheals: A Case Report.
[So] Source:Acta Derm Venereol;97(2):285-286, 2017 02 08.
[Is] ISSN:1651-2057
[Cp] País de publicação:Sweden
[La] Idioma:eng
[Mh] Termos MeSH primário: Danazol/uso terapêutico
Antagonistas de Estrogênios/uso terapêutico
Angioedema Hereditário Tipos I e II/complicações
Angioedema Hereditário Tipos I e II/tratamento farmacológico
[Mh] Termos MeSH secundário: Antifibrinolíticos/uso terapêutico
Cetirizina/uso terapêutico
Danazol/efeitos adversos
Antagonistas de Estrogênios/efeitos adversos
Feminino
Antagonistas dos Receptores Histamínicos H1 não Sedativos/uso terapêutico
Seres Humanos
Meia-Idade
Ácido Tranexâmico/uso terapêutico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antifibrinolytic Agents); 0 (Estrogen Antagonists); 0 (Histamine H1 Antagonists, Non-Sedating); 6T84R30KC1 (Tranexamic Acid); 6U5EA9RT2O (levocetirizine); N29QWW3BUO (Danazol); YO7261ME24 (Cetirizine)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170505
[Lr] Data última revisão:
170505
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160629
[St] Status:MEDLINE
[do] DOI:10.2340/00015555-2490


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[PMID]:27873761
[Au] Autor:Soni P; Kumar V; Alliu S; Shetty V
[Ad] Endereço:Department of Internal Medicine, Maimonides Medical Center, Brooklyn, New York, USA.
[Ti] Título:Hereditary angioedema (HAE): a cause for recurrent abdominal pain.
[So] Source:BMJ Case Rep;2016, 2016 Nov 14.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:A 44-year-old Hispanic woman presented to the emergency room with a 2-day history of sudden onset of severe cramping left lower quadrant abdominal pain associated with ∼20 episodes diarrhoea. Abdominal CT scan exhibited bowel wall oedema and acute extensive colitis. On the basis of the preliminary diagnosis of acute abdomen, the patient was admitted under the surgical team and treated for acute colitis. Since her family history was significant for hereditary angioedema (HAE), complement studies were performed which revealed low complement C4 levels and abnormally low values of C1q esterase inhibitor. Thus, the diagnosis of HAE type I was established. This case report summarises that the symptoms of HAE are often non-specific, hence making the underlying cause difficult to diagnose.
[Mh] Termos MeSH primário: Abdome Agudo/etiologia
Angioedema Hereditário Tipos I e II/complicações
[Mh] Termos MeSH secundário: Adulto
Complemento C4/metabolismo
Diarreia/etiologia
Feminino
Angioedema Hereditário Tipos I e II/diagnóstico
Angioedema Hereditário Tipos I e II/tratamento farmacológico
Seres Humanos
Recidiva
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Complement C4)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170224
[Lr] Data última revisão:
170224
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161123
[St] Status:MEDLINE


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[PMID]:27725554
[Au] Autor:Yakushiji H; Kaji A; Suzuki K; Yamada M; Horiuchi T; Sinozaki M
[Ad] Endereço:Emergency and Critical Care Center, Kishiwada Tokushukai Hospital, Japan.
[Ti] Título:Hereditary Angioedema with Recurrent Abdominal Pain in a Patient with a Novel Mutation.
[So] Source:Intern Med;55(19):2885-2887, 2016.
[Is] ISSN:1349-7235
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo: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. As the patient had no family history of hereditary diseases, it was considered to be a de novo mutation.
[Mh] Termos MeSH primário: Dor Abdominal/etiologia
Proteínas Inativadoras do Complemento 1/genética
Angioedema Hereditário Tipos I e II/genética
[Mh] Termos MeSH secundário: Adulto
Proteína Inibidora do Complemento C1
Feminino
Heterozigoto
Seres Humanos
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Complement C1 Inactivator Proteins); 0 (Complement C1 Inhibitor Protein); 0 (SERPING1 protein, human)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161012
[St] Status:MEDLINE


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[PMID]:27617473
[Au] Autor:Peterson MP; Bygum A
[Ad] Endereço:Dermatology and Allergy Centre, Odense University Hospital..
[Ti] Título:Hereditary angioedema: 44 years of diagnostic delay.
[So] Source:Dermatol Online J;22(4), 2016 Apr 18.
[Is] ISSN:1087-2108
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims of this report is to emphasize the importance of awareness concerning HAE, which does not respond to traditional anti-allergic therapy, and remind physicians to test for functional C1-INH deficiency.
[Mh] Termos MeSH primário: Diagnóstico Tardio
Angioedema Hereditário Tipos I e II/diagnóstico
[Mh] Termos MeSH secundário: Proteínas Inativadoras do Complemento 1/genética
Proteína Inibidora do Complemento C1
Angioedema Hereditário Tipos I e II/genética
Seres Humanos
Masculino
Meia-Idade
Fatores de Tempo
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Complement C1 Inactivator Proteins); 0 (Complement C1 Inhibitor Protein); 0 (SERPING1 protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160913
[St] Status:MEDLINE



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