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Icatibant use in Brazilian patients with hereditary angioedema (HAE) type 1 or 2 and HAE with normal C1-INH levels: findings from the Icatibant Outcome Survey Registry Study
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Grumach, Anete S.

; Henriques, Marina T.

; Bardou, Maine L.D.

; Pontarolli, Daniele A.

; Botha, Jaco

; Correa, Mariangela

Anais Brasileiros de Dermatologia

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aug 2022, Volume 97 N. 4 Pages 448 - 457

Abstract: En | Text: En | PDF: En

Abstract Background: Hereditary angioedema can be caused by C1-Inhibitor (C1-INH) deficiency and/or dysfunction (HAE-1/2) or can occur in patients with normal C1-INH (HAE nC1-INH). Methods: The Icatibant Outcome Survey (IOS; NCT01034969) registry monitors the safety and effectiveness of icatibant for treating acute angioedema. Objective: Present findings from Brazilian patients with HAE-1/2 and HAE nC1-INH participating in IOS. Results: 42 patients were enrolled (HAE-1/2, n = 26; HAE nC1-INH, n = 16). Median age at symptom onset was significantly lower with HAE-1/2 vs. HAE nC1-INH (10.0 vs. 16.5y, respectively; p = 0.0105), whereas median age at diagnosis (31.1 vs. 40.9y; p = 0.1276) and the median time between symptom onset and diagnosis (15.0 vs. 23.8y; p = 0.6680) were numerically lower vs. HAEnC1-INH, respectively. One icatibant dose was used for > 95% of HAE attacks. Median (range) time-to-event outcomes were shorter for patients with HAE nC1-INH vs. HAE-1/2, including time Study limitations: This was an observational study without a treatment comparator and that relied on patient recall. Conclusions: Findings demonstrate effectiveness and tolerability of icatibant in Brazilian HAE patients.

https://doi.org/10.1016/j.abd.2021.09.009

Hanseniasis in the municipality of Western Amazon (Acre, Brazil): are we far from the goal of the World Health Organization?
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Araújo, Francisco A.

; Abreu, Luiz C.

; Laporta, Gabriel Z.

; Santos, Vinicius S.

; Moreira, Jose G.V.

; Grumach, Anete S.

Brazilian Journal of Infectious Diseases

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2021, Volume 25 N. 1 elocation 101042

Abstract: En | Text: En | PDF: En

ABSTRACT Background: Hanseniasis is a public health concern in developing countries. Although a decrease in the number of new cases in Brazil has been reported, there is a prevalence above that recommended in some regions. Aims: Considering the goal of the World Health Organization (WHO) to accelerate towards a leprosy-free world from 2020, the aim of this study was to analyze the epidemiological profile and leprosy trends in the city of Cruzeiro do Sul, Acre, Brazil. Methods: This retrospective cohort study analyzed the epidemiology and trends of hanseniasis between 2005 and 2018, monitoring socioeconomic and clinical epidemiological variables obtained from the Information System of Notifiable Diseases of Hanseniasis (SINAN) database. Results: A total of 422 cases of hanseniasis (284 male, 138 female) were included. The questionnaire of six patients was incomplete. The highest number of cases (89) was recorded in 2006 (11.7/10,000 inhabitants). The borderline clinical form was most common, with 45.4% of cases. Throughout the historical series, the rate of annual percentage change in the detection of new cases and cases with grade 2 disability showed a decreasing profile, at −13.9 [95% CI: −19.1, −8.2] and −13.1 [95% CI: −21.8, −5.5], respectively. The same rates were observed in patients below 15 years of age. Limitations: This study reflects the scenario in one reference center and data were obtained retrospectively. Conclusions: The incidence of hanseniasis in this reference center is declining gradually; however, the indicators show active disease transmission and late diagnosis.

https://doi.org/10.1016/j.bjid.2020.11.007 157 downloads

Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis
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Giavina-Bianchi, Pedro

; Arruda, Luisa Karla

; Aun, Marcelo V.

; Campos, Regis A.

; Chong-Neto, Herberto J.

; Constantino-Silva, Rosemeire N.

; Fernandes, Fátima R.

; Ferraro, Maria F.

; Ferriani, Mariana P.L.

; França, Alfeu T.

; Fusaro, Gustavo

; Garcia, Juliana F.B.

; Komninakis, Shirley

; Maia, Luana S.M.

; Mansour, Eli

; Moreno, Adriana S.

; Motta, Antonio A.

; Pesquero, João B.

; Portilho, Nathalia

; Rosário, Nelson A.

; Serpa, Faradiba S.

; Solé, Dirceu

; Takejima, Priscila

; Toledo, Eliana

; Valle, Solange O.R.

; Veronez, Camila L.

; Grumach, Anete S.

Clinics

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2018, Volume 73 elocation e310

Abstract: En | Text: En | PDF: En

Hereditary angioedema is an autosomal dominant disease characterized by recurrent angioedema attacks with the involvement of multiple organs. The disease is unknown to many health professionals and is therefore underdiagnosed. Patients who are not adequately diagnosed and treated have an estimated mortality rate ranging from 25% to 40% due to asphyxiation by laryngeal angioedema. Intestinal angioedema is another important and incapacitating presentation that may be the main or only manifestation during an attack. In this article, a group of experts from the “Associação Brasileira de Alergia e Imunologia (ASBAI)” and the “Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH)” has updated the Brazilian guidelines for the diagnosis and treatment of hereditary angioedema.

https://doi.org/10.6061/clinics/2018/e310 1717 downloads

Hereditary angioedema: quality of life in Brazilian patients
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Gomide, Maria Abadia Consuelo M. S.

; Toledo, Eliana

; Valle, Solange Oliveira Rodrigues

; Campos, Regis A.

; França, Alfeu T.

; Gomez, Nieves Prior

; Andrade Jr., Heitor Franco

; Caballero, Teresa

; Grumach, Anete S.

Clinics

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jan 2013, Volume 68 N. 1 Pages 81 - 83

Abstract: En | Text: En | PDF: En

OBJECTIVE: Hereditary angioedema is a serious medical condition caused by a rare autosomal dominant genetic disorder and it is associated with deficient production or dysfunction of the C1 esterase inhibitor. In most cases, affected patients experience unexpected and recurrent crises of subcutaneous, gastrointestinal and laryngeal edema. The unpredictability, intensity and other factors associated with the disease impact the quality of life of hereditary angioedema patients. We evaluated the quality of life in Brazilian hereditary angioedema patients. METHODS: Patients older than 15 years with any severity of hereditary angioedema and laboratory confirmation of C1 inhibitor deficiency were included. Two questionnaires were used: a clinical questionnaire and the SF-36 (a generic questionnaire). This protocol was approved by the Ethics Committee of Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. RESULTS: The SF-36 showed that 90.4% (mean) of all the patients had a score below 70 and 9.6% had scores equal to or higher than 70. The scores of the eight dimensions ranged from 51.03 to 75.95; vitality and social aspects were more affected than other arenas. The internal consistency of the evaluation was demonstrated by a Cronbach's alpha value above 0.7 in seven of the eight domains. CONCLUSIONS: In this study, Brazilian patients demonstrated an impaired quality of life, as measured by the SF-36. The most affected domains were those related to vitality and social characteristics. The generic SF-36 questionnaire was relevant to the evaluation of quality of life; however, there is a need for more specific instruments for better evaluation.

https://doi.org/10.6061/clinics/2013(01)OA13 1965 downloads

Brazilian guidelines for the diagnosis and treatment of hereditary angioedema
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Giavina-Bianchi, Pedro

; França, Alfeu T.

; Grumach, Anete S.

; Motta, Abílio A

; Fernandes, Fátima R

; Campos, Regis A.

; Valle, Solange O

; Rosário, Nelson A

; Sole, Dirceu

Clinics

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2011, Volume 66 N. 9 Pages 1627 - 1636

Abstract: En | Text: En | PDF: En

Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom the disease goes undetected and who are therefore incorrectly treated is 25-40%. In addition to edema of the glottis, hereditary angioedema often results in edema of the gastrointestinal tract, which can be incapacitating. Patients with hereditary angioedema may undergo unnecessary surgical interventions because the digestive tract can be the primary or only organ system involved, thus mimicking acute surgical abdomen. It is estimated that patients with hereditary angioedema experience some degree of disability 20-100 days per year. The Experts in Clinical Immunology and Allergy of the "Associação Brasileira de Alergia e Imunopatologia -ASBAI" developed these guidelines for the diagnosis, therapy, and management of hereditary angioedema.

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Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes
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Valente, Neusa Y.S.

; Machado, Maria Cecilia M.R.

; Boggio, Paula

; Alves, Ana Cristina F.

; Bergonse, Fabiane N.

; Casella, Erasmo

; Vasconcelos, Dewton Moraes

; Grumach, Anete S.

; Oliveira, Zilda N.P. de

Clinics

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aug 2006, Volume 61 N. 4 Pages 327 - 332

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

OBJETIVO: Estudar e comparar o aspecto dos cabelos de portadores das síndromes de Chédiak-Higashi e Griscelli-Prunieras, tanto na microscopia óptica convencional quanto com luz polarizada. MÉTODO: Cabelos de dois doentes portadores da síndrome de Chédiak-Higashi e de dois portadores da síndrome de Griscelli-Prunieras foram obtidos e estudados tanto à microscopia convencional quanto com luz polarizada. RESULTADOS: Na microscopia óptica convencional, os cabelos dos doentes portadores da síndrome de Chédiak-Higashi mostraram grânulos de melanina regulares, com distribuição homogênea e de maior tamanho em comparação aos presentes no cabelo normal. À microscopia de luz polarizada notou-se aspecto brilhante e refringência policromática. Diferentemente, os cabelos dos doentes portadores da síndrome de Griscelli-Prunieras apresentaram à microscopia convencional, grânulos de melanina irregulares e maiores do que os presentes no cabelo normal e os presentes nos cabelos dos doentes portadores da síndrome de Chédiak-Higashi, preferencialmente próximos à medula das hastes pilosas. À microscopia de luz polarizada apresentaram aspecto monotonamente esbranquiçado. CONCLUSÃO: O exame dos cabelos pela microscopia convencional nas síndromes de Chédiak-Higashi e Griscelli-Prunieras revela diferenças sutis no reconhecimento dessas doenças. No presente trabalho apresentamos evidência de que o exame das hastes pilosas com microscopia de luz polarizada - não descrito previamente - contribui na diferenciação de ambas doenças sugerindo que esse seja um método diagnóstico útil na distinção entre as síndromes de Chédiak-Higashi e Griscelli Prunieras, especialmente nos casos em que estudos moleculares mais sofisticados não estejam disponíveis.

PURPOSE: To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD: Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS: Under light microscopy, hairs from Chédiak-Higashi patients presented evenly distributed, regular melanin granules, larger than those seen in normal hairs. Under polarized light microscopy, shafts exhibited a bright and polychromatic refringence appearance. In contrast, hair from Griscelli-Prunieras patients, under light microscopy, exhibited bigger and irregular melanin granules, distributed mainly near the medulla. Under polarized light microscopy, shafts appeared monotonously white. CONCLUSION: Light microscopic examination of hair shafts of patients with Chédiak-Higashi or Griscelli-Prunieras syndrome reveals subtle differences that are useful in identifying both disorders, but not in distinguishing between them. We provide evidence that polarized light microscopy of hair shafts, an approach that has not been previously described, aids in differentiating between these syndromes. We propose hair study by polarized light microscopy as a helpful complementary diagnostic method for differential diagnosis between CHS and GPS, especially when the more sophisticated molecular studies are not available.

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Involvement of C4 allotypes in the pathogenesis of human diseases
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Samano, Eliana Sueco Tibana

; Ribeiro, Lia de Melo

; Gorescu, Rosa G.

; Rocha, Katya Cristina

; Grumach, Anete S.

Revista do Hospital das Clínicas

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2004, Volume 59 N. 3 Pages 138 - 144

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

O sistema complemento constitui um importante sistema de defesa humoral, exercendo papel relevante na resposta contra agentes microbianos, no controle da resposta inflamatória e na depuração de imunocomplexos. A ativação da via clássica é dependente da formação do complexo antígeno-anticorpo. O componente C4 do complemento participa da etapa inicial de ativação desta via e a sua expressão é determinada por dois alótipos : C4A e C4B. A deficiência dos alótipos de C4 tem sido relacionada a várias doenças. O objetivo do presente estudo foi avaliar os dados de literatura que descrevem as deficiências específicas de C4A e C4B com a finalidade de caracterizar seu significado clínico. Foi realizada uma ampla revisão bibliográfica através do MEDLINE e LILACS, avaliando-se os dados de literatura. Excluiu-se estudos com a avaliação de C4 total sem a análise dos alótipos e relatos de caso isolados de deficiência total de C4. Verificou-se que a deficiência dos alótipos de C4 está relacionada com algumas doenças: hanseníase, esclerose sistêmica com anticorpos anti-topoisomerase I, hiperplasia adrenal congênita intermediária com genótipo DR5, diabetes mellitus tipo 1 com genótipo DR3,4 e diabetes mellitus tipo 1 com anticorpos anti-células das ilhotas. Também foram observadas algumas associações entre C4B e doenças auto-imunes como lupus eritematoso sistêmico, ou que se supõe terem um componente auto-imune como o autismo. Estudos demonstraram associações do C4A com tireoidite pós-parto, esclerose limitada e esclerose sistêmica sem anticorpos anti-topoisomerase I. Porém, os estudos dos alótipos de C4 se concentraram em populações isoladas e alguns destes não conseguiram ser reproduzidos por outros autores.

The complement system is an important humoral defense mechanism that plays a relevant role against microbial agents, inflammatory response control, and immunocomplex clearance. Classical complement pathway activation is antibody-dependent. The C4 component participates in the initial step of activation, and C4 expression is determined by 2 pairs of allotypes: C4A and C4B. Deficiencies in C4 allotypes have been associated with several diseases. The aim of the present review is evaluate the reported data in the literature regarding specific C4A and C4B deficiencies and characterize their clinical relevance. We searched the MEDLINE and LILACS databases. Papers referring to total C4 deficiency without allotype evaluation and case reports of primary C4 deficiency were not included. Deficiencies in C4 allotypes have been associated with Mycobacterium leprae infection, erythema nodosum, systemic sclerosis with anti-topoisomerase I antibodies, intermediate congenital adrenal hyperplasia with DR5 genotype, diabetes mellitus type 1 with DR3,4 genotype, and diabetes mellitus with antibodies against islet cells. C4 allotype deficiency is also related to C4B deficiency and autoimmune-associated diseases, such as systemic lupus erythematosus, or diseases with an autoimmune component, such as autism. Some reports associate C4A with thyroiditis after delivery as well as limited and systemic sclerosis without anti-topoisomerase I antibodies. However, the studies with C4A and C4B have been concentrated in isolated populations, and some of the studies could not be reproduced by other authors.

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Nutritional factors in milk from Brazilian mothers delivering small for gestational age neonates
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Grumach, Anete S.

; Jerônimo, Solange E.I.

; Hage, Marcia

; Carneiro-Sampaio, Magda M.S.

Revista de Saúde Pública

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dec 1993, Volume 27 N. 6 Pages 455 - 462

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

A composição do leite de mães brasileiras de lactentes de baixo peso e sua adequação como fonte de nutrientes para este grupo ainda não foi totalmente elucidada. Um total de 209 amostras de leite de 66 nutrizes foram analisadas. As mães foram divididas em três grupos: G1, mães de recém-nascidos (RN) a termo, com baixo peso (TSGA, n=16); G2, mães de RN pré-termo, com peso adequado (PTAGA, n=20); G3, mães de RN a termo e peso adequado (TAGA, n=30). Os seguintes fatores foram analisados: osmolaridade, proteínas totais e frações, crematócrito, sódio, potássio, cálcio e magnésio. As amostras foram coletadas 48 h, no 7º, 15º, 30º e 60º dias após o parto. Os grupos não diferiram em termos de osmolaridade, proteínas totais e frações, crematócrito, cálcio, magnésio ou potássio durante o estudo. Os níveis de sódio foram maiores em todas as amostras de mães de TSGA e em mães de PTAGA no 7º, 15º e 30º dias em relação a mães de TAGA. Foram consideradas as necessidades dos lactentes de baixo peso e TAGA, e estes níveis de sódio podem ser necessários para o crescimento dos RN de baixo peso.

The composition of breast milk from brazilian mothers delivering low birthweight infants and its adequacy as a source of nutrients for this group has not yet been fully elucidated. A total of 209 milk samples from 66 women were analysed. The mothers were divided into three groups: G1, mothers delivering term babies of low birthweight (TSGA, n=16); G2, mothers delivering preterm babies of appropriate birthweight (PTAGA, n=20); G3, mothers delivering term babies of appropriate birthweight (TAGA, n=30). The following factors were analysed: osmolarity, total proteins and protein fractions, creamatocrit, sodium, potassium, calcium and magnesium. Milk samples were collected 48 h and 7, 15, 30 and 60 days after delivery. The groups did not differ significantly in terms of osmolarity, total proteins and fractions, creamatocrit, calcium, magnesium or potassium throughout the study period. Sodium levels were higher in all samples from mothers of TSGA infants and in samples from mothers of PTAGA infants on the 7th, 15th and 30th days than in milk from the TAGA group. The authors consider the needs of the low birthweight and TAGA infants and that these high sodium levels may be necessary for growth of low birthweight infants.

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Nutritional factors in milk from Brazilian mothers delivering small for gestational age neonates
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Grumach, Anete S.

; Jerônimo, Solange E.I.

; Hage, Marcia

; Carneiro-Sampaio, Magda M.S.

Revista de Saúde Pública

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dec 1993, Volume 27 N. 6 Pages 455 - 462

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

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