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.

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.

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.

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.

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.

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.

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.

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

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.

Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families.

Background: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare condition with clinical features similar to those of HAE with C1-INH deficiency. Mutations in the F12 gene have been identified in subsets of patients with HAE with normal C1-INH, mostly within families of European descent.

Objectives: Our aim was to describe clinical characteristics observed in Brazilians from 42 families with HAE and F12 gene mutations (FXII-HAE), and to compare these findings with those from other populations.

Icatibant, an inhibitor of bradykinin receptor 2, for hereditary angioedema attacks: prospective experimental single-cohort study.

Context And Objective: Hereditary angioedema (HAE) with C1 inhibitor deficiency manifests as recurrent episodes of edema involving the skin, upper respiratory tract and gastrointestinal tract. It can be lethal due to asphyxia. The aim here was to evaluate the response to therapy for these attacks using icatibant, an inhibitor of the bradykinin receptor, which was recently introduced into Brazil.

Hereditary angioedema: quality of life in Brazilian patients.

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.

Association between obesity and asthma among teenagers.

Context And Objective: Obesity and asthma are serious and growing problems. Since adipose tissue produces inflammatory substances, the aim of this study was to estimate the prevalence of asthma among students at schools in São José do Rio Preto (Phase 1), and to corroborate the hypothesis for an association between obesity and asthma among these students (Phase 2).

Design And Setting: Cross-sectional study at Faculdade de Medicina de São José do Rio Preto (Famerp).

[Phadiatop in the diagnosis of respiratory allergy in children: Allergy Project--PROAL].

Objectives: To evaluate the positivity of Phadiatop in children from several Brazilian pediatric allergology centers and to compare its results with the presence of serum specific IgE to inhalant and food allergens.

Patients And Method: Phadiatop and serum specific IgE levels (RAST) to inhalant and food allergens (UniCAP - Pharmacia) were measured in 457 children from several pediatric allergy centers and in a non-allergic control group (n = 62), distributed across five age groups.

Results: Phadiatop was positive in 305 atopic children (67.