Insights from the first 820 patients from the Brazilian Multicenter Registry of Hereditary Angioedema: the key role of genetic testing and targeted therapies.

Background: Hereditary angioedema (HAE) is a rare autosomal dominant disorder with a prevalence of 1:50,000 individuals. Delayed diagnosis and deaths from asphyxia still occur.

Objective: To identify knowledge and management gaps regarding clinical, genetic, and therapeutic aspects of HAE in Brazil, aiming to improve patient care and outcomes.

Nutritional status and metabolic alterations in patients with ataxia-telangiectasia.

Background: Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by progressive degeneration, immunodeficiency, cancer predisposition, malnutrition, metabolic disorders, and chronic liver disease. The study aims to describe the nutritional status and plasma levels of biomarkers of lipid status, metabolic profile, and liver function of patients with A-T.

Results: A total of 218 patients from 9 Latin American countries were included in the study.

Efficacy and safety of using Elexacaftor/Tezacaftor/Ivacaftor in the treatment of children with cystic fibrosis: real-world evidence from Brazil.

Objective: Cystic fibrosis (CF) treatment has evolved significantly with the development of CFTR modulators, particularly elexacaftor/tezacaftor/ivacaftor (ETI). This study aimed to evaluate in a real-life context, the efficacy, safety and tolerability of ETI in children and adolescents with CF at a national reference center in Brazil.

Methods: A cohort of 39 patients (mean age: 11.

International survey of treatment practices for atopic dermatitis in pregnant and breastfeeding women: Physician perspectives.

Background And Objectives: Systemic treatment of pregnant/breastfeeding atopic dermatitis (AD) patients is challenging due to limited safety data. We explored treatment practices with systemic agents, including the guideline-recommended cyclosporine as the first systemic choice as well as emerging therapies, in this vulnerable population.

Patients And Methods: The Global Allergy and Asthma Excellence Network (GALEN) ADCARE initiative collected data from physicians worldwide who treat pregnant women with AD.

Food additives and their impact on human health.

Increasing evidence suggests that high consumption of ultra-processed foods (UPF) is associated with an increase in noncommunicable diseases, overweight, and obesity. This review aimed to verify the association of UPF with inflammatory diseases, especially allergic diseases. To identify relevant articles, an extensive literature search was conducted using the two most important search sites - PubMed and Google Scholar.

Pesticides and human health.

Objectives: to review scientific evidence on the impacts of pesticides on child health, addressing prenatal and postnatal exposures, acute and chronic effects.

Data Source: narrative literature review, using databases such as PubMed, SciELO and Google Scholar. The inclusion criteria involved studies published between 2000 and 2023 that analyzed the relationship between pesticides and child health, including systematic reviews, cohort studies, case-control studies and clinical trials.

How does air quality affect the health of children and adolescents?

Objectives: To assess how air quality and pollutants affect the health of children and adolescents.

Source Of Data: A narrative review of recent literature was conducted using PubMed databases, focusing on studies published between 2015 and 2023. The keywords included "air pollution", "child health", "adolescents", "respiratory diseases" and "cognitive development".

Newborn screening for inborn errors of immunity: The status worldwide.

Background: Newborn screening (NBS) for the early detection of inborn errors of immunity (IEI) has been implemented in a few countries. The objective of this study was to verify the situation and define obstacles to the implementation of NBS worldwide.

Methods: A questionnaire was developed by the Inborn Errors of Immunity Committee of the World Allergy Organization (WAO) with 17 questions regarding NBS for IEI in the physician's workplace, NBS test type, problems hindering NBS implementation, reimbursement for IEI therapy, presence of a national IEI registry, referral centers, molecular diagnosis, hematopoietic stem cell transplantation centers, gene therapy, and immunoglobulin replacement therapy.

Translation, adaptation, and psychometric properties of the Brazilian-Portuguese version of the Quality of Life in Children with Vernal Keratoconjunctivitis questionnaire.

Purpose: The prevalence of ocular allergy varies according to the population and location of the study. Severe forms of ocular allergy are associated with compromised quality of life. In this study, we aimed to evaluate the application of the Brazilian-Portuguese version of the Quality of Life in Children with Keratoconjunctivitis questionnaire to children and adolescents with different subtypes of allergic conjunctivitis.

[RAST, Inmunoblot, Immunocap and ISAC in food allergy].

skin tests; Sensitization; IgE-mediated allergy; allergenic extract. After the discovery of IgE, technological advances have provided new laboratory tools for the quantification of allergen-specific IgE antibodies in serum and on the surface of basophils-mast cells. In vitro testing offers numerous advantages: accurate quantitation, lack of drug interference, safety, and long-term storage of samples.

Radon exposure: a major cause of lung cancer in nonsmokers.

Exposure to radon can impact human health. This is a nonsystematic review of articles written in English, Spanish, French, or Portuguese published in the last decade (2013-2023), using databases such as PubMed, Google Scholar, EMBASE, and SciELO. Search terms selected were radon, human health, respiratory diseases, children, and adults.

Microplastics exposure and immunologic response.

Objective: To assess the impact of microplastics (MPs) on human health.

Data Source: The authors conducted a non-systematic review of articles published in English, Portuguese, French, and Spanish in the last decade in the following databases: PubMed, Google Scholar, EMBASE, and SciELO. The keywords used were: microplastics OR nanoplastics OR marine litter OR toxicology OR additives AND human health OR children OR adults.

Urticaria exacerbations and adverse reactions in patients with chronic urticaria receiving COVID-19 vaccination: Results of the UCARE COVAC-CU study.

Background: Concern about disease exacerbations and fear of reactions after coronavirus disease 2019 (COVID-19) vaccinations are common in chronic urticaria (CU) patients and may lead to vaccine hesitancy.

Objective: We assessed the frequency and risk factors of CU exacerbation and adverse reactions in CU patients after COVID-19 vaccination.

Methods: COVAC-CU is an international multicenter study of Urticaria Centers of Reference and Excellence (UCAREs) that retrospectively evaluated the effects of COVID-19 vaccination in CU patients aged ≥18 years and vaccinated with ≥1 dose of any COVID-19 vaccine.

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.

A narrative review of recent literature of the quality of life in hereditary angioedema patients.

Hereditary angioedema (HAE) is a rare disorder that causes unpredictable and debilitating cutaneous and submucosal edema and can lead to death. HAE can impair patients' ability to perform daily activities, proportional to pain severity, with patients reporting lower productivity, missed time from work or school and potentially resulting in missed career and educational opportunities. Many patients with HAE experience a significant psychological burden, including anxiety and depression.

Prevalence of rhinitis and associated factors in adolescents and adults: a Global Asthma Network study.

Objective: To determine the prevalence of allergic rhinitis and associated factors in adolescents and in their parents/guardians.

Methods: A cross-sectional study, applying a standardized and validated written questionnaire. Adolescents (13-14 years old; n=1,058) and their parents/guardians (mean age=42.

Environmental impact of inhaler devices on respiratory care: a narrative review.

Climate change is a huge and present threat to human health. This article aims to deepen the knowledge about the environmental impact of inhaler devices on their carbon footprint for patients and health professionals, providing information that allows a better choice of the type of device to be prescribed for the treatment of asthma and COPD. This narrative and nonsystematic review was carried out by searching databases (PubMed, Google Scholar, SciELO, and EMBASE) for articles published between 2017 and 2022, written in Portuguese or in English, using the search words "inhalation device" OR "environmental.

Environmental history-taking as part of pediatric consultations: a pilot study.

Introduction. Children's environmental health studies the influence of the environment on health and disease in children. Global environmental exposures pose a serious threat to health, warranting further research and action.

Long-term Prophylaxis with Androgens in the management of Hereditary Angioedema (HAE) in emerging countries.

Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by repetitive subcutaneous or submucosal angioedema, activation of the kinin system, and increased vascular permeability. C1-inhibitor (C1-INH) deficiency, the main mechanism of HAE pathogenesis, occurs when abnormal activation of plasma kallikrein, bradykinin, and factor XII, or mutation of genes such as SERPING1 cause quantitative or functional C1-INH defects. Although androgens are not approved for HAE treatment in many countries, they are widely used in China and Brazil to reduce the frequency and severity of HAE attacks.