Are pediatricians familiar with hereditary angioedema?

Background: Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent episodes of subcutaneous or mucosal edema caused by excess bradykinin. The aim of the present study was to assess the knowledge of pediatricians about hereditary angioedema. Methods: An online survey with 12 HAE-related and 14 demographics-related questions was e-mailed to all pediatricians who were members of the Brazilian Society of Pediatrics (n = 17 145) once a week during the months of June and July 2021. The electronic questionnaire assessed clinical manifestations, diagnosis, and treatment of hereditary angioedema in children and adolescents. Results: Four hundred and fifty-five pediatricians responded to the questionnaire (2.6%), of whom 55 (12.1%) were board certified in Allergy and Immunology (A/I), while 400 (87.9%) were not (N-A/I). Three hundred and sixty-eight (80.9%) were female, 289 (55.7%) were under 50 years of age, 286 (62.9%) graduated from Medical School more than 10 years previously, 83 (18.2%) held an MSc/PhD degree, and 253 (55.6%) were living in the Southeast Region of Brazil. The median number of correct answers to the questions related to HAE among A/I was 7 out of 12 (58.3%), with median ranging from 4.5 to 8 correct answers, while for N-A/I it was 3 (25%), with median ranging from 2.5 to 4 correct answers (p < 0.001). Conclusion: Knowledge about HAE among Brazilian pediatricians, whether board certified in Allergy and Immunology or not, was unsatisfactory. HAE is a rare disease, largely unknown among physicians; therefore, increasing awareness may lead to improvement in diagnosis and treatment.

Diferenças entre compreensão e aplicação de regras do código de pontuação na visão de árbitros(as) brasileiros(as) de ginástica artística / Differences between understanding and applying rules of the code of points in the view of brazilian artistic gymnastics judges / Diferencias entre la comprensión y la aplicación de las reglas del código de puntuación en opinión de los árbitros brasileños de gimnasia artística

A arbitragem no campo esportivo define o campeão, e sua atuação vem sendo cada vez mais valorizada e, paradoxalmente, questionada. Esta pesquisa objetiva identificar se há ou não diferenças entre a compreensão que árbitros(as) brasileiros(as) de Ginástica Artística possuem sobre as regras e como elas são aplicadas. A amostra foi de 58 árbitros(as), de nível nacional e internacional, atuantes no período de 2017-2020. O instrumento foi o questionário, com análise quantitativa dos dados. Identificou-se que há diferenças entre a compreensão e a aplicação das regras estabelecidas pelo Código de Pontuação (CP), gerando reflexões sobre a melhor estruturação do CP e do processo de formação dos(das) árbitros(as) para sanar as lacunas causadas por essas diferenças.

Judging in the sports field defines the champion, and its performance has been increasingly valued and, paradoxically, questioned. This research aims to identify whether or not there are differences between the understanding that Brazilian Artistic Gymnastics judges have about the rules and how they are applied. The sample consisted of 58 judges, national and international level, working in the period 2017-2020. The instrument was a question-naire, with quali-quantitative analysis of the data. It was identified that there are differences between the understanding and applica-tion of the rules established by the Code of Points (CoP), generat-ing reflections on the better structuring of the CoP and the judges' training process to solve the gaps caused by these differences.

El arbitraje en el ámbito deportivo define al campeón, y su actuación ha sido cada vez más valorada y cuestionada. Esta investigación tiene como objetivo identificar si existen o no diferencias entre la comprensión que los árbitros de gimnasia artística brasileña tienen sobre las reglas y cómo se aplican. La muestra fue de 58 árbitros, de ámbito nacional e internacional, que trabajaron en el periodo 2017-2020. El instrumento fue el cuestionario, con análisis cuali-cuantitativo de los datos. Se identificó que existen diferencias entre la comprensión y la aplicación de las reglas establecidas por el Código de Puntuación (CP), generando reflexiones sobre la mejor estructuración del CP y el proceso de formación de los árbitros para remediar las lagunas causadas por estas diferencias.

Diferenças entre compreensão e aplicação de regras do código de pontuação na visão de árbitros(as) brasileiros(as) de ginástica artística / Differences between understanding and applying rules of the code of points in the view of brazilian artistic gymnastics judges / Diferencias entre la comprensión y la aplicación de las reglas del código de puntuación en opinión de los árbitros brasileños de gimnasia artística

A arbitragem no campo esportivo define o campeão, e sua atuação vem sendo cada vez mais valorizada e, paradoxalmente, questionada. Esta pesquisa objetiva identificar se há ou não diferenças entre a compreensão que árbitros(as) brasileiros(as) de Ginástica Artística possuem sobre as regras e como elas são aplicadas. A amostra foi de 58 árbitros(as), de nível nacional e internacional, atuantes no período de 2017-2020. O instrumento foi o questionário, com análise quantitativa dos dados. Identificou-se que há diferenças entre a compreensão e a aplicação das regras estabelecidas pelo Código de Pontuação (CP), gerando reflexões sobre a melhor estruturação do CP e do processo de formação dos(das) árbitros(as) para sanar as lacunas causadas por essas diferenças (AU).

Judging in the sports field defines the champion, and its performance has been increasingly valued and, paradoxically, questioned. This research aims to identify whether or not there are differences between the understanding that Brazilian Artistic Gymnastics judges have about the rules and how they are applied. The sample consisted of 58 judges, national and international level, working in the period 2017-2020. The instrument was a question-naire, with quali-quantitative analysis of the data. It was identified that there are differences between the understanding and applica-tion of the rules established by the Code of Points (CoP), generat-ing reflections on the better structuring of the CoP and the judges' training process to solve the gaps caused by these differences (AU).

El arbitraje en el ámbito deportivo define al campeón, y su actuación ha sido cada vez más valorada y cuestionada. Esta investigación tiene como objetivo identificar si existen o no dife-rencias entre la comprensión que los árbitros de gimnasia artística brasileña tienen sobre las reglas y cómo se aplican. La muestra fue de 58 árbitros, de ámbito nacional e internacional, que trabajaron en el periodo 2017-2020. El instrumento fue el cuestionario, con análisis cuali-cuantitativo de los datos. Se identificó que existen di-ferencias entre la comprensión y la aplicación de las reglas estable-cidas por el Código de Puntuación (CP), generando reflexiones sobre la mejor estructuración del CP y el proceso de formación de los árbitros para remediar las lagunas causadas por estas diferencias (AU).

In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation.

OBJECTIVE: To report our five-years experience on the use of NLRP3 inflammasome functional assays in the differential diagnosis of Brazilian patients with a clinical suspicion of CAPS. PATIENTS AND METHODS: The study included 9 patients belonging to 2 families (I, II) and 7 unrelated patients with a clinical suspicion of AID according to Eurofever/PRINTO classification, recruited between 2017 and 2022. The control group for the NLRP3 functional assay consisted of 10 healthy donors and for the CBA cytokines measurement of 19 healthy controls. Patients underwent clinical evaluation, genetic and functional analysis. RESULTS: All members of the family I received the diagnosis of Muckle-Wells Syndrome (MWS), carried the NLRP3 Thr348Met variant and resulted positive for the functional assay. The 2 patients of the family II resulted negative for the mutational screening but positive for the functional assay compatible with a MWS clinical phenotype. In 2 unrelated patients with NLRP3 mutations, including a novel mutation (Gly309Val, Asp303His), a positive functional test confirmed the clinical diagnosis of NOMID. 3 unrelated MWS and 1 FCAS patients resulted negative to the genetic screening and positive for the functional test. One patient with a FCAS-like phenotype harbored the NLRP12 His304Tyr variant confirming the diagnosis of FCAS2. CONCLUSION: The NLRP3 inflammasome functional assay can assist the clinical diagnosis of CAPS even in patients with unknown genetic defects.

Diretrizes brasileiras do angioedema hereditário 2022 ­ Parte 1: definição, classificação e diagnóstico / 2022 Brazilian guidelines for hereditary angioedema ­ Part 1: definition, classification, and diagnosis

O angioedema hereditário é uma doença autossômica dominante caracterizada por crises recorrentes de edema que acometem o tecido subcutâneo e o submucoso, com envolvimento de diversos órgãos. Os principais locais afetados são face, membros superiores e inferiores, as alças intestinais e as vias respiratórias superiores. Em decorrência da falta de conhecimento dessa condição por profissionais de saúde, ocorre atraso importante no seu diagnóstico, comprometendo a qualidade de vida dos indivíduos afetados. Além disso, o retardo no diagnóstico pode resultar em aumento da mortalidade por asfixia devido ao edema de laringe. A natureza errática das crises com variação do quadro clínico e gravidade dos sintomas entre diferentes pacientes, e no mesmo paciente ao longo da vida, se constitui em desafio no cuidado dos doentes que têm angioedema hereditário. O principal tipo de angioedema hereditário é resultante de mais de 700 variantes patogênicas do gene SERPING1 com deficiência funcional ou quantitativa da proteína inibidor de C1, porém nos últimos anos outras mutações foram descritas em seis outros genes. Ocorreram avanços importantes na fisiopatologia da doença e novas drogas para o tratamento do angioedema hereditário foram desenvolvidas. Nesse contexto, o Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH) em conjunto com a Associação Brasileira de Alergia e Imunologia (ASBAI) atualizou as diretrizes brasileiras do angioedema hereditário. O maior conhecimento dos diversos aspectos resultou na divisão das diretrizes em duas partes, sendo nessa primeira parte abordados a definição, a classificação e o diagnóstico.

Hereditary angioedema is an autosomal dominant disease characterized by recurrent attacks of edema that affect the subcutaneous tissue and the submucosa, involving several organs. The main affected sites are the face, upper and lower limbs, gastrointestinal tract, and upper airways. Because health professionals lack knowledge about this condition, there is a significant delay in diagnosis, compromising the quality of life of affected individuals. Furthermore, delayed diagnosis may result in increased mortality from asphyxia due to laryngeal edema. The erratic nature of the attacks with variations in clinical course and severity of symptoms among different patients and in one patient throughout life constitutes a challenge in the care of patients with hereditary angioedema. The main type of hereditary angioedema results from more than 700 pathogenic variants of the SERPING1 gene with functional or quantitative deficiency of the C1 inhibitor protein, but in recent years other mutations have been described in six other genes. Important advances have been made in the pathophysiology of the disease, and new drugs for the treatment of hereditary angioedema have been developed. In this context, the Brazilian Study Group on Hereditary Angioedema (GEBRAEH) in conjunction with the Brazilian Association of Allergy and Immunology (ASBAI) updated the Brazilian guidelines on hereditary angioedema. Greater knowledge of different aspects resulted in the division of the guidelines into two parts, with definition, classification, and diagnosis being addressed in this first part.

Diretrizes brasileiras de angioedema hereditário 2022 ­ Parte 2: terapêutica / 2022 Brazilian guidelines for hereditary angioedema ­ Part 2: therapy

O tratamento do angioedema hereditário tem início com a educação dos pacientes e familiares sobre a doença, pois é fundamental o conhecimento da imprevisibilidade das crises, assim como os seus fatores desencadeantes. O tratamento medicamentoso se divide em terapia das crises e profilaxia das manifestações clínicas. As crises devem ser tratadas o mais precocemente possível com o uso do antagonista do receptor de bradicinina, o icatibanto ou o concentrado de C1-inibidor. É necessário estabeler um plano de ação em caso de crises para todos os pacientes. A profilaxia de longo prazo dos sintomas deve ser realizada preferencialmente com medicamentos de primeira linha, como concentrado do C1-inibidor ou o anticorpo monoclonal anti-calicreína, lanadelumabe. Como segunda linha de tratamento temos os andrógenos atenuados. Na profilaxia de curto prazo, antes de procedimentos que podem desencadear crises, o uso do concentrado de C1-inibidor é preconizado. Existem algumas restrições para uso desses tratamentos em crianças e gestantes que devem ser consideradas. Novos medicamentos baseados nos avanços do conhecimento da fisiopatologia do angioedema hereditário estão em desenvolvimento, devendo melhorar a qualidade de vida dos pacientes. O uso de ferramentas padronizadas para monitorização da qualidade de vida, do controle e da atividade da doença são fundamentais no acompanhamento destes pacientes. A criação de associações de pacientes e familiares de pacientes com angioedema hereditário tem desempenhado um papel muito importante no cuidado destes pacientes no nosso país.

The treatment of hereditary angioedema begins with the education of patients and their families about the disease, as it is essential to know the unpredictability of attacks as well as their triggering factors. Drug treatment is divided into attack therapy and prophylaxis of clinical manifestations. Attacks should be treated as early as possible with the bradykinin receptor antagonist icatibant or C1-inhibitor concentrate. An action plan needs to be established for all patients with attacks. Long-term prophylaxis of symptoms should preferably be performed with first-line drugs such as C1-inhibitor concentrate or the anti-kallikrein monoclonal antibody lanadelumab. Attenuated androgens are the second line of treatment. In short-term prophylaxis, before procedures that can trigger attacks, the use of C1-inhibitor concentrate is recommended. There are some restrictions for the use of these treatments in children and pregnant women that should be considered. New drugs based on advances in knowledge of the pathophysiology of hereditary angioedema are under development and are expected to improve patient quality of life. The use of standardized tools for monitoring quality of life and controlling disease activity is essential in the follow-up of these patients. The creation of associations of patients and families of patients with hereditary angioedema has played a very important role in the care of these patients in Brazil.

SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.

Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the most critical group of inborn errors of immunity (IEI). Affected infants present with early onset life-threatening infections due to absent or non-functional T cells. Without early diagnosis and curative treatment, most die in early infancy. As most affected infants appear healthy at birth, newborn screening (NBS) is essential to identify and treat patients before the onset of symptoms. Here, we report 47 Brazilian patients investigated between 2009 and 2020 for SCID due to either a positive family history and/or clinical impression and low TRECs. Based on clinical presentation, laboratory finding, and genetic information, 24 patients were diagnosed as typical SCID, 14 as leaky SCID, and 6 as Omenn syndrome; 2 patients had non-SCID IEI, and 1 remained undefined. Disease onset median age was 2 months, but at the time of diagnosis and treatment, median ages were 6.5 and 11.5 months, respectively, revealing considerable delay which affected negatively treatment success. While overall survival was 51.1%, only 66.7% (30/45) lived long enough to undergo hematopoietic stem-cell transplantation, which was successful in 70% of cases. Forty-three of 47 (91.5%) patients underwent genetic testing, with a 65.1% success rate. Even though our patients did not come from the NBS programs, the diagnosis of SCID improved in Brazil during the pilot programs, likely due to improved medical education. However, we estimate that at least 80% of SCID cases are still missed. NBS-SCID started to be universally implemented in the city of São Paulo in May 2021, and it is our hope that other cities will follow, leading to early diagnosis and higher survival of SCID patients in Brazil.

Hospital admission for symptoms exacerbation in 2,075 infants suffering from recurrent asthma-like symptoms: (EISL-3 South America).

BACKGROUND: Contrary to what happens in children and adults, the prevalence and the factors related to hospitalisation for asthma/wheezing in infants with recurrent asthma-like symptoms are poorly known. METHODS: This study is part of the International Study of Wheezing in infants Phase 3; 2,079 infants (aged 12-18 months) with recurrent asthma-like symptoms, from 11 South American centres, were studied to determine the prevalence and the associated factors for wheezing exacerbation admission. Descriptive statistics and multivariate logistic regression were employed for analysis. RESULTS: The prevalence of admission for wheezing was 29.7% (95% CI 27.7-31.6) and was significantly associated to severe wheezing episodes (OR: 3.89; 95% CI: 2.93-5.18, p < 0.001), physician-diagnosed asthma (OR: 1.79; 95% CI: 1.33-2.41, p < 0.0001), use of inhaled corticosteroids (OR: 1.78; 95%CI: 1.38-2.29, p < 0.0001), maternal tobacco smoking during pregnancy (OR: 1.69; 95% CI: 1.19-2.39, p = 0.003) and onset of wheezing in the first trimester of life (OR: 1.30; 95% CI: 1.02-1.66, p = 0.038). Breast feeding ≥4 months (OR: 0.72; 95% CI: 0.54-0.96, p = 0.004), maternal high educational level (>12 years) (OR: 0.66; 95% CI: 0.51-0.85, p = 0.001) and total monthly household income ≥US$ 3,000 (OR: 0.34; 95% CI: 0.18-0.67, p = 0.002), were protective factors. CONCLUSIONS: Infants with recurrent asthma-like symptoms have a high rate of admissions. Tobacco smoking in pregnancy, viral respiratory illness in the first trimester of life and severe progression were risks for admissions. Improving medical management to prevent severe exacerbations, prolonging the postnatal period at home longer than 3 months, favouring breastfeeding and avoiding smoking during pregnancy may have a preventive role for admissions in infants with recurrent asthma-like symptoms.

Hospital admission for symptoms exacerbation in 2.075 infants suffering from recurrent asthma-like symptoms: (EISL-3 South America)

Background: Contrary to what happens in children and adults, the prevalence and the factors related to hospitalisation for asthma/wheezing in infants with recurrent asthma-like symptoms are poorly known. Methods: This study is part of the International Study of Wheezing in infants Phase 3; 2,079 infants (aged 12–18 months) with recurrent asthma-like symptoms, from 11 South American centres, were studied to determine the prevalence and the associated factors for wheezing exacerbation admission. Descriptive statistics and multivariate logistic regression were employed for analysis. Results: The prevalence of admission for wheezing was 29.7% (95% CI 27.7–31.6) and was significantly associated to severe wheezing episodes (OR: 3.89; 95% CI: 2.93–5.18, p < 0.001), physician-diagnosed asthma (OR: 1.79; 95% CI: 1.33–2.41, p < 0.0001), use of inhaled corticosteroids (OR: 1.78; 95%CI: 1.38–2.29, p < 0.0001), maternal tobacco smoking during pregnancy (OR: 1.69; 95% CI: 1.19–2.39, p = 0.003) and onset of wheezing in the first trimester of life (OR: 1.30; 95% CI: 1.02–1.66, p = 0.038). Breast feeding ≥4 months (OR: 0.72; 95% CI: 0.54–0.96, p = 0.004), maternal high educational level (>12 years) (OR: 0.66; 95% CI: 0.51–0.85, p = 0.001) and total monthly household income ≥US$ 3,000 (OR: 0.34; 95% CI: 0.18–0.67, p = 0.002), were protective factors. Conclusions: Infants with recurrent asthma-like symptoms have a high rate of admissions. Tobacco smoking in pregnancy, viral respiratory illness in the first trimester of life and severe progression were risks for admissions. Improving medical management to prevent severe exacerbations, prolonging the postnatal period at home longer than 3 months, favouring breastfeeding and avoiding smoking during pregnancy may have a preventive role for admissions in infants with recurrent asthma-like symptoms (AU)

Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study.

PURPOSE: There is still scarce data on SARS-CoV-2 infection in patients with Inborn Errors of Immunity (IEI) and many unresolved questions. We aimed to describe the clinical outcome of SARS-CoV-2 infection in Brazilian IEI patients and identify factors influencing the infection. METHODS: We did a cross-sectional, multicenter study that included patients of any age affected by IEI and SARS-CoV-2 infection. The variables studied were sex, age, type of IEI, comorbidities (number and type), treatment in use for IEI, clinical manifestations and severity of SARS-CoV-2 infection. RESULTS: 121 patients were included: 55.4% female, ages from six months to 74 yo (median age = 25.1 yo). Most patients had predominantly antibody deficiency (n = 53). The infection was mostly asymptomatic (n = 21) and mild (n = 66), and one child had multisystem inflammatory syndrome (MIS-C). We could not observe sex-related susceptibility, and there was a weak correlation between age and severity of infection. The number of comorbidities was higher in severe cases, particularly bronchiectasis and cardiopathy. There were no severe cases in hereditary angioedema patients. Six patients aged 2 to 74 years died, three of them with antibody deficiency. CONCLUSION: The outcome was mild in most patients, but the Case Fatality Ratio was higher than in the general population. However, the type of IEI was not a determining factor for severity, except for complement deficiencies linked to milder COVID-19. The severity of SARS-CoV-2 infection seems to be more related to older age, a higher number of comorbidities and type of comorbidities (bronchiectasis and cardiopathy).

Hereditary angioedema: how to approach it at the emergency department?

Angioedema attacks are common causes of emergency care, and due to the potential for severity, it is important that professionals who work in these services know their causes and management. The mechanisms involved in angioedema without urticaria may be histamine- or bradykinin-mediated. The most common causes of histamine-mediated angioedema are foods, medications, insect sting and idiopathic. When the mediator is bradykinin, the triggers are angiotensin-converting enzyme inhibitors and factors related to acquired angioedema with deficiency of C1-inhibitor or hereditary angioedema, which are less common, but very important because of the possibility of fatal outcome. Hereditary angioedema is a rare disease characterized by attacks of edema that affect the subcutaneous tissue and mucous membranes of various organs, manifesting mainly by angioedema and abdominal pain. This type of angioedema does not respond to the usual treatment with epinephrine, antihistamines and corticosteroids. Thus, if not identified and treated appropriately, these patients have an estimated risk of mortality from laryngeal edema of 25% to 40%. Hereditary angioedema treatment has changed dramatically in recent years with the development of new and efficient drugs for attack management: plasma-derived C1 inhibitor, recombinant human C1-inhibitor, bradykinin B2 receptor antagonist (icatibant), and the kallikrein inhibitor (ecallantide). In Brazil, plasma-derived C1 inhibitor and icatibant have already been approved for use. Proper management of these patients in the emergency department avoids unnecessary surgery and, especially, fatal outcomes.

Hereditary angioedema: a disease seldom diagnosed by pediatricians

Abstract Objectives: To describe the hereditary angioedema to improve awareness of this condition and reduce diagnostic delay. Data sources: Relevant articles in the MEDLINE database through PubMed. Data synthesis: Hereditary angioedema is rare and has an autosomal dominant pattern of inheritance. Its onset occurs mainly in childhood, but there is an important delay in the diagnosis. In the most frequent phenotype, there is a quantitative and/or functional deficiency in the C1esterase inhibitor protein, which regulates the activation of the complement, contact and fibrinolysis systems with greater formation of bradykinin, the main mediator of angioedema. There is a third type, the hereditary angioedema with a normal C1 inhibitor level, which is rare in children. Clinical manifestations are characterized by recurrent angioedema attacks, mainly in the extremities, abdomen and upper airways, which can progress to asphyxia and death. The main triggers are mechanical trauma, infections and stress. The diagnosis is attained by patient clinical picture and decreased serum levels of C4 and C1esterase inhibitor or its function. In hereditary angioedema with a normal C1 inhibitor, there is no change in these parameters, thus requiring a genetic study. Treatment is based on the use of attack medications and long and short-term prophylaxis. Conclusions: Hereditary angioedema is little known by pediatricians due to the significant delay in diagnosis of this condition, whose onset usually begins in childhood. The presence of recurrent angioedema that does not respond to treatment with antihistamines, corticosteroids and adrenaline should increase the diagnostic suspicion.

Vacinação contra COVID-19 em pacientes portadores de angioedema hereditário: recomendações do Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH) / COVID-19 vaccination in patients with hereditary angioedema: recommendations from the Brazilian Group for the Study on Hereditary Angioedema (GEBRAEH)

No curso da pandemia da COVID-19, o desenvolvimento rápido de vacinas seguras e eficazes é a principal estratégia de saúde pública para conter a propagação da doença. Nesse contexto, esclarecimentos em relação à prioridade e segurança da vacinação contra COVID-19 em pacientes portadores de angioedema hereditário (AEH), assim como de outras doenças, são necessários. Todos os pacientes devem receber a vacina seguindo a estratégia do Ministério da Saúde e manter as medidas de higiene, uso de máscaras e distanciamento social até o controle da pandemia.

During the COVID-19 pandemic, the rapid development of safe and effective vaccines is the main public health strategy to avoid the spread of the disease. In this context, clarifications regarding the priority and safety of vaccination against COVID-19 in patients with hereditary angioedema (HAE), as well as other diseases, are needed. All patients should receive the vaccine according to the Brazilian Ministry of Health strategy and adhere to measures such as maintaining general hygienic measures, wearing masks, and keeping social distance until the pandemic is controlled.

The Challenges in the Follow-Up and Treatment of Brazilian Children with Hereditary Angioedema.

INTRODUCTION: Hereditary angioedema (HAE) with C1 inhibitor (C1-INH) deficiency is a rare autosomal dominant disease. Although the first symptoms can appear in childhood, the diagnosis's delay has a strong impact on the patient's quality of life. We analyzed clinical and laboratory characteristics and the drug therapy of pediatric patients with HAE in Brazil. METHODS: Medical records from 18 reference centers of HAE patients under 18 years of age were evaluated after confirmed diagnosis was performed by quantitative and/or functional C1-INH. RESULTS: A total of 95 participants (51 M:44 F; mean age: 7 years old) out of 17 centers were included; 15 asymptomatic cases were identified through family history and genetic screening. Angioedema attacks affected the extremities (73.5%), gastrointestinal tract (57%), face (50%), lips (42.5%), eyelids (23.7%), genitals (23.7%), upper airways (10%), and tongue (6.3%). Family history was present in 84% of patients, and the mean delay in the diagnosis was 3.9 years. Long-term prophylaxis (51/80) was performed with tranexamic acid (39/80) and androgens (13/80); and short-term prophylaxis (9/80) was performed with tranexamic acid (6/80) and danazol (3/80). On-demand therapy (35/80) was prescribed: icatibant in 7/35, fresh frozen plasma in 16/35, C1-INH plasma-derived in 11/35, and tranexamic acid in 12/35 patients. CONCLUSIONS: This is the first study on HAE pediatric patients in Latin America. Clinical manifestations were similar to adults. Drugs such as androgens and tranexamic acid were indicated off-label, probably due to restricted access to specific drugs. Educational programs should address pediatricians to reduce late diagnosis and tailored child therapy.

Hereditary angioedema: a disease seldom diagnosed by pediatricians.

OBJECTIVES: To describe the hereditary angioedema to improve awareness of this condition and reduce diagnostic delay. DATA SOURCES: Relevant articles in the MEDLINE database through PubMed. DATA SYNTHESIS: Hereditary angioedema is rare and has an autosomal dominant pattern of inheritance. Its onset occurs mainly in childhood, but there is an important delay in the diagnosis. In the most frequent phenotype, there is a quantitative and/or functional deficiency in the C1esterase inhibitor protein, which regulates the activation of the complement, contact and fibrinolysis systems with greater formation of bradykinin, the main mediator of angioedema. There is a third type, the hereditary angioedema with a normal C1 inhibitor level, which is rare in children. Clinical manifestations are characterized by recurrent angioedema attacks, mainly in the extremities, abdomen and upper airways, which can progress to asphyxia and death. The main triggers are mechanical trauma, infections and stress. The diagnosis is attained by patient clinical picture and decreased serum levels of C4 and C1esterase inhibitor or its function. In hereditary angioedema with a normal C1 inhibitor, there is no change in these parameters, thus requiring a genetic study. Treatment is based on the use of attack medications and long and short-term prophylaxis. CONCLUSIONS: Hereditary angioedema is little known by pediatricians due to the significant delay in diagnosis of this condition, whose onset usually begins in childhood. The presence of recurrent angioedema that does not respond to treatment with antihistamines, corticosteroids and adrenaline should increase the diagnostic suspicion.

Hereditary angioedema: how to approach it at the emergency department? / Angioedema hereditário: como abordar na emergência?

ABSTRACT Angioedema attacks are common causes of emergency care, and due to the potential for severity, it is important that professionals who work in these services know their causes and management. The mechanisms involved in angioedema without urticaria may be histamine- or bradykinin-mediated. The most common causes of histamine-mediated angioedema are foods, medications, insect sting and idiopathic. When the mediator is bradykinin, the triggers are angiotensin-converting enzyme inhibitors and factors related to acquired angioedema with deficiency of C1-inhibitor or hereditary angioedema, which are less common, but very important because of the possibility of fatal outcome. Hereditary angioedema is a rare disease characterized by attacks of edema that affect the subcutaneous tissue and mucous membranes of various organs, manifesting mainly by angioedema and abdominal pain. This type of angioedema does not respond to the usual treatment with epinephrine, antihistamines and corticosteroids. Thus, if not identified and treated appropriately, these patients have an estimated risk of mortality from laryngeal edema of 25% to 40%. Hereditary angioedema treatment has changed dramatically in recent years with the development of new and efficient drugs for attack management: plasma-derived C1 inhibitor, recombinant human C1-inhibitor, bradykinin B2 receptor antagonist (icatibant), and the kallikrein inhibitor (ecallantide). In Brazil, plasma-derived C1 inhibitor and icatibant have already been approved for use. Proper management of these patients in the emergency department avoids unnecessary surgery and, especially, fatal outcomes.

RESUMO As crises de angioedema são causas comuns de atendimentos nas emergências, e devido ao potencial de gravidade, é importante que os profissionais que atuam nesses serviços conheçam suas causas e abordagem. Os mecanismos envolvidos no angioedema sem urticas podem ser histaminérgicos ou mediados por bradicinina. As causas mais comuns de angioedema mediado por histamina são alimentos, medicamentos, ferroada de insetos e idiopática. Quando o mediador é a bradicinina, os desencadeantes são os inibidores da enzima conversora de angiotensina e fatores relacionados ao angioedema adquirido com deficiência do inibidor de C1 ou angioedema hereditário que são menos comuns, mas muito importantes pela possibilidade de desfecho fatal. O angioedema hereditário é uma doença rara, caracterizada por crises de edema que acometem o tecido subcutâneo e mucosas de vários órgãos, manifestando-se principalmente por crises de angioedema e dor abdominal. Esse tipo de angioedema não responde ao tratamento usual com adrenalina, anti-histamínicos e corticosteroides. Assim, se não identificados e tratados adequadamente, esses pacientes têm risco de morte por edema de laringe estimado em 25% a 40%. O tratamento do angioedema hereditário mudou drasticamente nos últimos anos, com o desenvolvimento de novos e eficientes fármacos para as crises: inibidor de C1 derivado de plasma, inibidor de C1 recombinante humano, antagonista do receptor B2 da bradicinina (icatibanto) e o inibidor da calicreína (ecalantide). No Brasil, até o momento, estão liberados para uso o inibidor de C1 derivado de plasma e o icatibanto. O manejo correto desses pacientes na emergência evita cirurgias desnecessárias e, principalmente, desfechos fatais.

Institucionalização da ginástica para todos no brasil: três décadas de desafios e conquistas (1988-2018) / Institutionalization of gymnastics for all in brazil: three decades of challenges and achievements (1988-2018) / Institucionalización de la gimnasia para todos en brasil: tres décadas de desafíos y logros (1988-2018)

Este estudo analisou a institucionalização da Ginástica Para Todos (GPT) no âmbito da Confederação Brasileira de Ginástica (CBG), entre 1988 e 2018. Trata-se de uma pesquisa documental e um estudo de campo, incluindo entrevistas e questionários, cujos dados foram tra - tados por análise de conteúdo. Identificou-se um paulatino crescimen - to da GPT, embora ainda sem a consolidação de um festival nacional. Os profissionais que atuam junto à CBG contribuíram para mudanças administrativas, apesar de ainda haver dificuldades na constituição do comitê. Constatou-se que a formação de especialistas é realizada funda - mentalmente pelas universidades, sem a participação da CBG. Por fim, é patente a maior atenção ao esporte de alto rendimento, dificultando o desenvolvimento da GPT nacionalmente.

This study analyzed the institutionalization of Gymnastics for All (GfA) within the Brazilian Gymnastics Confederation (CBG), between 1988 and 2018. A documental research and a field research were conduct, including interviews and questionnaires, whose data were treated by content analysis. We identified a gradual growth of GfA, although still without the consolidation of a national festival. The experts which collaborate with CBG contributed to administrative changes, despite difficulties in setting up the committee are still noted. It was found that the instructors training is carried out meanly by universities, without the participation of the CBG. Finally, greater attention to high performance sport is evident, hindering the development of GfA nationally.

Este estudio analizó la institucionalización de la Gimnasia para Todos (GPT) en el interior de la Confederación Brasileña de Gimnasia (CBG), entre 1988 y 2018. Una investigación documental y un estudio de campo fue realizado, incluyendo entrevistas y cuestionarios, cuyos datos fueron tratados por análisis de contenido. Identificamos un crecimiento gradual de GPT, aunque todavía sin la consolidación de un festival nacional. Los profesionales que trabajaran para la CBG contribuyeron para cambios administrativos, aunque las dificultades para establecer el comité. Se descubrió que la formación de especialistas se lleva a cabo principalmente por las universidades, sin la participación de la CBG. Finalmente, es evidente una mayor atención al deporte de alto rendimiento, lo que dificulta el desarrollo de GPT a nivel nacional.

Capoeira e formação inicial em Educação Física: um estudo de caso / Capoeira and the training in Physical Education: a case study / Capoeira y formación inicial en Educación Física: un estudio de caso

A Capoeira vem se destacando nos ambientes educativos, mas há poucas pesquisas sobre sua presença na formação inicial. O objetivo deste estudo foi o de identificar e analisar o impacto do ensino-aprendizado da Capoeira num curso de Licenciatura em EF, com maior foco nos conhecimentos apreendidos na formação inicial dos estudantes. A metodologia utilizada foi o estudo de caso. A análise de conteúdo foi feita com a triangulação dos dados, e a discussão se baseou nos conhecimentos mais relevantes abordados nas experiências que colaborariam com o futuro profissional e na verificação da relevância da Capoeira. Os dados indicaram que a maioria dos participantes reconheceu a importância da Capoeira como conteúdo, entretanto foi apontada falta de autonomia dos estudantes com referência à sua formação inicial.

Capoeira has been prominent in educational environments, but there is little research on its incidence in the initial training. The purpose of this study is to identify the knowledge acquired in Capoeira teaching and learning and its importance in the initial training of the Physical Education undergraduates. The methodology used was the case study. The content analysis was done through the data triangulation, and the interpretation was based on the most relevant scholarly knowledge on the expected professional experiences and on the verification of the relevance of Capoeira. The data indicated that the majority of the participants recognized the importance of Capoeira as content, but they also pointed to a lack of autonomy of the students in their initial training.

La Capoeira está adquiriendo cierta relevancia en el contexto educativo, sin embargo, el número de investigaciones que la abordan en el formación inicial resulta limitado. El presente trabajo tiene como objetivo identificar y analizar el impacto de enseñanza-aprendizaje de la Capoeira,en un curso de Licenciatura en Educación Física, con foco en los conocimientos aprendidos en la formación inicial de los estudiantes. Se utilizó el estudio de caso como metodología. El análisis de contenido fue realizado mediante la triangulación de los datos. La discusión se articuló en torno a los conocimientos más relevantes abordados, a las experiencias de colaboración del futuro profesional y a la verificación de la importancia de la Capoeira. Los datos mostraron que la mayoría de los participantes reconocieron la relevancia de la Capoeira como contenido pero, se encontró una falta de autonomía del alumnado en relación con su formación inicial.