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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. The survey was sent by email once a week to doctors and others associated with WAO and the main immunology societies worldwide as a Google Form™ to be completed during September and October 2021. Results: Two hundred twenty-nine questionnaires were completed, of which 216 (94.3%) were completed by physicians. One hundred seventy-six (76.8%) physicians were both allergists and immunologists. The agreement between allergists/immunologists and non-allergists/non-immunologists for the question "Is there NBS for IEI in the country you work in?" was good (κ = 0,64: 95% CI 0.55-0.69). Ninety-eight (42.8%) participants were from Latin America, 35 (15.3%) from North America, 29 (12.6%) from Europe, 18 (7.9%) from Africa, 44 (19.2%) from Asia, and 5 (2.2%) from Oceania. More than half the participants (n = 124, 54.2%) regularly treated patients with IEI, followed by occasional treatment (n = 77, 33.6%), or never (n = 28, 12.2%). Of the respondents, 14.8% reported that their countries performed NBS for IEI, whereas 42.2% reported their countries did not. T-cell receptor excision circles was the most widely used technique in some countries, with 75 (59.9%) for the diagnosis of NBS for IEI, followed by combined use with kappa deleting-recombination excision circles. Only 13 participants (10.3%) underwent neonatal exon screening in their respective countries. Financial and technical issues were among the major obstacles to the implementation of NBS for IEI. Conclusions: This pilot study showed that few countries have implemented NBS for IEI, despite the presence of immunology referral centers and the availability of hematopoietic stem cell transplantation and intravenous immunoglobulin replacement therapy. The findings highlight the difficulties, mainly financial and technical, hindering wide application of NBS. Sharing experiences, technologies, and resources at the international level can help overcome these difficulties.

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Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0)  and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.

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Objetivo: Identificar possíveis fatores sociodemográficos, econômicos, de saúde, ambientais e de hábitos de vida associados a efeitos adversos sobre a saúde de moradores em três cidades brasileiras. Método: Estudo transversal com abordagem quantitativa realizado nas cidades de Imperatriz (Maranhão), Palmas (Tocantins) e Salvador (Bahia). Participaram 975 pacientes (18 a 75 anos) atendidos em unidades básicas de saúde no período de junho de 2021 a junho de 2022. Esses indivíduos foram selecionados aleatoriamente (amostra de conveniência). Foi aplicado o questionário padronizado sobre fatores sociodemográficos e exposição a fatores ambientais, assim como o de hábitos de vida. Empregou-se a situação de saúde (excelente/boa x regular/ má/péssima) como desfecho, foi realizada análise multivariada seguida por regressão logística respeitando-se cada município individualmente e o seu coletivo. Os dados foram apresentados como odds ratio (OR) e intervalos de confiança de 95% (IC95%). Resultados: Em todas as cidades houve predomínio de pacientes do sexo feminino: 58,3% em Imperatriz, 67,5% em Tocantins e 65,4% em Salvador. A prevalência de tabagismo (presente e/ou passado) foi significantemente mais elevada em Salvador, assim como a de consumo de álcool. Houve maior referência de saúde regular/má/péssima entre os moradores de Imperatriz, apesar de em Salvador haver o maior relato de comorbidades. Os fatores ambientais associados à condição precária de saúde, em ambos os modelos de análise, foram: ter sido exposto durante a infância a fogão a lenha/carvão/querosene/outro; passar mais de duas horas na cozinha, com fogão em funcionamento; e residir próximo a uma fonte poluidora. Morar em Imperatriz revelou chance 1,8 vezes maior de ter saúde debilitada quando comparado aos moradores de Salvador, e de 1,7 vezes para os de Palmas. Conclusões: Profissionais de saúde deverão orientar a população quanto as questões socioambientais que interferem nos índices de saúde. Os dados demográficos, ambientais e econômicos podem interferir nas condições de saúde.

Objective: To identify potential sociodemographic, socioeconomic, health, environmental, and lifestyle factors associated with adverse health effects in residents of 3 Brazilian cities. Methods: This cross-sectional study with a quantitative approach was conducted in the cities of Imperatriz (Maranhão), Palmas (Tocantins), and Salvador (Bahia). A total of 975 patients aged 18 to 75 years treated at primary health care units from June 2021 to June 2022 were selected via convenience sampling. A standardized questionnaire on sociodemographic characteristics, exposure to environmental factors, and lifestyle habits was administered. The outcome measured was health status (excellent/good vs fair/bad/very poor). Multivariate analysis was performed using logistic regression, respecting each municipality individually and collectively. Data were presented as odds ratios (OR) and 95%CIs. Results: Women predominated in all cities: 58.3% in Imperatriz, 67.5% in Tocantins, and 65.4% in Salvador. The prevalence of smoking (present and/or past) was significantly higher in Salvador, as was the prevalence of alcohol consumption. Despite Salvador having the highest rate of comorbidities, residents of Imperatriz reported more instances of fair/poor/very poor health. Environmental factors significantly associated with poor health conditions in both analysis models included exposure to wood/ coal/kerosene/other stoves during childhood, spending more than 2 hours in the kitchen with a working stove, and living close to a pollution source. Residents of Imperatriz were 1.8 times and 1.7 times more likely to have poor health compared with residents of Salvador (a more developed center with more health resources) and Palmas, respectively. Conclusions: Health professionals should guide the population regarding socio-environmental issues affecting health indices. Demographic, environmental, and economic data can impact health conditions.

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O Relatório Lancet Countdown tem feito importantes contribuições ao denunciar os principais agravos à saúde ambiental, graças à ação antropogênica, cada vez mais intensa. O desflorestamento, os incêndios florestais, cada vez mais incontroláveis, a seca, o consumo de combustíveis fósseis, o uso de energia não renovável, propiciam o aparecimento de alterações climáticas caracterizadas por ondas de calor, tempestades cada vez mais intensas, inundações e o consequente comprometimento da saúde dos humanos. A versão Lancet Countdown South America apresenta de forma clara e chocante as alterações no continente e faz chamamento para que essas alterações sejam bloqueadas, pois ainda há tempo.

The Lancet Countdown Report has made significant contributions by exposing the main impacts on environmental health caused primarily by increasingly intense anthropogenic action. Deforestation, increasingly uncontrollable forest fires, drought, fossil fuels, and nonrenewable energy contribute to the onset of climate change. This change is characterized by heat waves, increasingly intense storms, and floods that, consequently, compromise human health. The South America report of The Lancet Countdown highlights the alarming changes occurring in the continent and urges action to stop these changes while there is still time.

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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. METHOD: A total of 48 patients (aged 5-12 years) with allergic conjunctivitis were included in this study. They were enrolled and monitored at a specialized center. After the clinical appointment, the children responded to the questionnaire on two occasions at an interval of 30 days. Individual scores (ranging from 0 to 3) of the 16 items were added. RESULTS: The Brazilian-Portuguese version of the Quality of Life in Children with Keratoconjunctivitis questionnaire demonstrated good translation, adaptation, and intellectual properties, with substantial internal consistency (Cronbach's α coefficient = 0.702). There was no significant difference between the responses of the two interviews, revealing good reproducibility. The moderate/severe forms of allergic conjunctivitis had significantly higher quality of life scores (indicating a poorer quality of life) than the mild forms. CONCLUSIONS: The Brazilian-Portuguese version of the Quality of Life in Children with Keratoconjunctivitis proved to be quick, reliable, and reproducible for assessing the quality of life in children with allergic conjunctivitis. However, its ability to detect changes resulting from symptom aggravation or treatment needs to be further evaluated.

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INTRODUÇÃO: A anafilaxia é uma reação alérgica multissistêmica grave, de início agudo e potencialmente fatal. Poucos são os dados sobre sua epidemiologia no Brasil. O Registro Brasileiro de Anafilaxia da Associação Brasileira de Alergia e Imunologia (RBAASBAI) teve como objetivo ampliar o conhecimento sobre anafilaxia em indivíduos brasileiros. MÉTODOS: Estudo observacional transversal com questionário online sobre dados demográficos, desencadeantes suspeitos, manifestações clínicas, atendimento durante a reação, investigação diagnóstica e aconselhamento após a reação de pacientes que experimentaram uma reação anafilática. RESULTADOS: Entre junho/2021 e abril/2023, foram incluídos 237 pacientes (131 femininos): 99 crianças/adolescentes; 127 adultos e 11 idosos. Houve predomínio de meninos entre crianças/adolescentes (55,5%), e de mulheres entre os adultos (64,5%), e mediana de idade de 22 anos (< 1 a 77 anos). As manifestações cutâneas (92,8%) foram as mais frequentes, seguidas pelas respiratórias (70,1%), gastrointestinais (52,3%), neurológicas (36,3%) e cardiovasculares (35,3%). Os principais desencadeantes foram: alimentos (43,0%), medicamentos (26,2%), himenópteros (21,6%) e látex (2,5%); os alimentos entre crianças (leite, ovo, amendoim/castanhas), e os fármacos (anti-inflamatórios e antibióticos) entre os adultos. Quanto ao tratamento, 61,1% recebeu adrenalina (52,7% por profissional e 8,4% via autoinjetor de adrenalina -AIA). Uma adolescente (12 anos) faleceu após picada de abelha. A maioria recebeu plano escrito de emergência (78,1%) e foi ensinada a usar o AIA (70%). CONCLUSÃO: Os alimentos foram os desencadeantes mais comuns entre crianças/adolescentes, e os fármacos entre adultos brasileiros. A adrenalina continua sendo subutilizada, reforçando a necessidade de maior disseminação do tratamento adequado da anafilaxia.

INTRODUCTION: Anaphylaxis is a life-threatening, acute, severe multisystem allergic reaction.There is little data on its epidemiology in Brazil. The Brazilian Anaphylaxis Registry of the Brazilian Association of Allergy and Immunology (RBA-ASBAI) was devised to expand knowledge about anaphylaxis in Brazilian individuals. METHODS: Cross-sectional observational study using an online questionnaire to collect data on demographics, suspected triggers, clinical manifestations, treatment during the reaction, diagnostic workup, and post-reaction counseling in patients who have experienced an anaphylactic reaction. RESULTS: Between June 2021 and April 2023, 237 patients were included (131 female): 99 children/adolescents (<18yo), 127 adults (18-64yo), and 11 older adults (65-77yo). There was a male predominance in the pediatric group (55.5%), while females were predominant among adults (64.5%). The median age was 22 years (range, <1 to 77). The most frequent clinical manifestations were cutaneous (92.8%), followed by respiratory (70.1%), gastrointestinal (52.3%), neurological (36.3%), and cardiovascular (35.3%). The most common triggers were foods (43.0%), drugs (26.2%), venoms (21.6%), and latex (2.5%). Foods (milk, egg, peanuts/tree nuts) predominated among children, versus drugs (mostly nonsteroidal anti-inflammatory drugs and antibiotics) among adults. Regarding treatment, 61.1% received epinephrine (52.7% by a healthcare professional and 8.4% via epinephrine auto-injector [EAI]). One teenager (12yo) died due to a bee sting. Most patients received a written emergency plan (78.1%) and were taught how to use the EAI (70%). CONCLUSION: Foods were the most common triggers of anaphylaxis among Brazilian children and adolescents, while drugs predominated among adults. Epinephrine continues to be underused, highlighting the need for greater awareness of proper treatment of anaphylaxis.

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OBJETIVO: A relação entre exposição ambiental e risco à saúde é amplamente reconhecida e a avaliamos em cinco países da América Latina com condições culturais distintas, mas com Índices de Desenvolvimento Humano semelhantes. MÉTODOS: Estudo transversal envolvendo 3.016 indivíduos (18 a 75 anos) oriundos de: Argentina (n = 878), Brasil (n = 1.030), México (n = 272), Paraguai (n = 508) e Peru (n = 328). A seleção foi aleatória e todos responderam questionário padronizado (fatores sociodemográficos, fatores ambientais e hábitos de vida) derivado do Clinical Screening Tool for Air Pollution Risk. Segundo o estado atual de saúde, foram categorizados em: saúde regular/má/péssima ou excelente/boa. Tendo-a como desfecho, realizou-se análise multivariada.Os dados foram apresentados como razão de verossimilhança (RV) e intervalos de confiança de 95% (IC 95%), tendo-se 5% o nível de significância. RESULTADOS: Foram significantemente associados a pior percepção de situação de saúde: morar em qualquer um dos países, ter umidade na residência (OR = 1,68; IC 95%: 1,33-2,12), dirigir automóvel com janelas abertas (OR = 1,31; IC 95%: 1,03-1,65), ter baixa renda familiar (OR = 1,59; IC 95%: 1,26-2,01), nível educacional incompleto (OR = 1,54; IC 95%: 1,22-1,94), histórico pessoal/familiar de hipertensão arterial (OR = 2,25; IC 95%: 01,64-3,09), doença pulmonar obstrutiva crônica/asma (OR = 1,74; IC 95%: 1,28-2,36), diabete melito (OR = 3,74; IC 95%: 2,23-6,29), obesidade (OR = 1,84; IC 95%: 1,84-3,19) ou comorbidades oftalmológicas (OR = 1,89; IC 95%: 1,55-2,30); realizar exercícios ao ar livre (OR = 1,60; IC 95%: 1,31-1,96). CONCLUSÕES: Apesar das diferentes exposições a que foram submetidos, alguns fatores permanecem muito significativos, e ter baixa renda familiar, expor-se à poluição e ter antecedentes de doenças crônicas foram associados à percepção de condição ruim de saúde.

OBJECTIVE: The relationship between environmental exposure and health outcomes is well known.We investigated this relationship in five Latin American countries with different cultural backgrounds but similar Human Development Indexes. METHODS: This was a cross-sectional study involving 3,016 individuals (18 to 75 years old) from Argentina (n=878), Brazil (n=1030), Mexico (n=272), Paraguay (n=508), and Peru (n=328). Participants were randomly selected and responded to a standardized questionnaire (including sociodemographic and environmental factors and lifestyle habits) derived from a clinical screening tool for air pollution risk. Based on their current health status, participants were categorized as having regular/bad/very bad or excellent/good health. Multivariate analysis was conducted, and data were presented as likelihood ratios and 95% confidence intervals (95%CI).The significance level was set at 5%. RESULTS: Living in any of the study countries; indoor humidity (OR=1.68; 95%CI: 1.33-2.12); driving with the windows open (OR=1.31; 95%CI: 1.03-1.65); low family income (OR=1.59; 95%CI: 1.26-2.01); incomplete education (OR=1.54; 95%CI: 1.22-1.94); personal/family history of hypertension (OR=2.25; 95%CI: 01.643.09), chronic obstructive pulmonary disease/asthma (OR=1.74; 95%:CI: 1.28-2.36), diabetes (OR=3.74; 95%CI:2.23-6.29), obesity (OR=1.84; 95%CI: 1.84-3.19), or ocular comorbidities (OR=1.89; 95%CI: 1.55-2.30); and exercising outdoors (OR=1.60; 95%CI: 1.31-1.96) were significantly associated with a worse perceived health status. CONCLUSIONS: Despite the different exposures to which participants were subjected, some factors remain very significant. Low family income, exposure to pollution, and a history of chronic diseases were associated with the perception of a poor health condition.

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ABSTRACT Purpose: To determine normal corneal tomographic parameters in children and adolescents without corneal disease or atopy diagnosis. Methods: This descriptive cross-sectional study evaluated patients aged 8-16 years who underwent a complete slit-lamp biomicroscopic examination and tomographic corneal evaluation by a dual Scheimpflug analyzer, excluding those with ocular disease (including allergic conjunctivitis) or a positive prick test for systemic atopies. Results: A total of 170 patients were evaluated, and 34 patients (68 eyes) were analyzed once the exclusion criteria were applied. The sample's mean age was 10.76 ± 2.31 years; with 19 (55.9%) men and 15 (44.1%) women. The mean keratometry in the flat meridian (Kflat), steep meridian (Ksteep), and maximum (Kmax) were 42.37 ± 1.63D, 43.53 ± 1.65D, and 43.90 ± 1.73D, respectively. The mean values for corneal asphericity (ε2) and thinnest point were 0.28 ± 0.11 and 550.20 ± 37.90 μm, respectively. The inferior-superior asymmetry ratio (I-S) and coma were 0.74 ±0.59D and 0.28 ± 0.12D, respectively. Conclusion: The knowledge of normal corneal tomographic parameters and their variation in children and adolescents without corneal disease or atopy may be useful for diagnosing keratoconus and initiating early disease treatment.

RESUMO Objetivo: Identificar parâmetros tomográficos de normalidade em córneas de crianças e adolescentes sem a presença de atopias sistêmicas e alergias oculares. Métodos: Este estudo descritivo transversal avaliou pacientes com idade entre 8 e 16 anos que foram submetidos a exame biomicroscópico completo por lâmpada de fenda e avaliação tomográfica da córnea por tomógrafo dual Scheimpflug, excluindo pacientes com doença ocular (incluindo conjuntivite alérgica) ou prick test positivo para atopias sistêmicas. Resultados: Cento e setenta pacientes foram avaliados e após cumpridos os critérios de exclusão, 34 (68 olhos) foram analisados. A média etária da amostra foi 10,76 ± 2,31 anos; 19 (55,9%) eram meninos e 15 (44,1%) meninas. A média da ceratometria em dioptrias (D) no meridiano mais plano (Kflat), mais curvo (Ksteep) e máxima (Kmax) foram 42,37 ± 1,63D, 43,53 ± 1,65D e 43,90 ± 1,73D, respectivamente. Os valores médios da asfericidade corneana (ε2) e do ponto mais fino da córnea foram 0,28 ± 0,11 e 550,20 ± 37,90 micras (μm). A assimetria corneana inferior-superior (I-S) e coma foi em média 0,74 ± 0,59D e 0,28 ± 0,12D, respectivamente. Conclusão: O conhecimento dos valores médios e sua variação de parâmetros tomográficos da córnea em crianças e adolescentes sem atopias sistêmicas ou alergias oculares pode ser útil para o diagnóstico precoce do ceratocone e o seu tratamento em estágio inicial.

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ABSTRACT 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. Method: A total of 48 patients (aged 5-12 years) with allergic conjunctivitis were included in this study. They were enrolled and monitored at a specialized center. After the clinical appointment, the children responded to the questionnaire on two occasions at an interval of 30 days. Individual scores (ranging from 0 to 3) of the 16 items were added. Results: The Brazilian-Portuguese version of the Quality of Life in Children with Keratoconjunctivitis questionnaire demonstrated good translation, adaptation, and intellectual properties, with substantial internal consistency (Cronbach's α coefficient = 0.702). There was no significant difference between the responses of the two interviews, revealing good reproducibility. The moderate/severe forms of allergic conjunctivitis had significantly higher quality of life scores (indicating a poorer quality of life) than the mild forms. Conclusions: The Brazilian-Portuguese version of the Quality of Life in Children with Keratoconjunctivitis proved to be quick, reliable, and reproducible for assessing the quality of life in children with allergic conjunctivitis. However, its ability to detect changes resulting from symptom aggravation or treatment needs to be further evaluated.

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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. After analyzing the titles and abstracts, the researchers initially identified 47 studies, which were subsequently reduced to 40 after excluding reviews, dissertations, theses, and case-control studies. The studies have shown that enclosed environments such as residences and workplaces have higher levels of radon than those outdoors. Moreover, radon is one of the leading causes of lung cancer, especially in nonsmokers. An association between exposure to radon and development of other lung diseases, such as asthma and COPD, was also observed. It is crucial to increase public awareness and implement governmental control measures to reduce radon exposure. It is essential to quantify radon levels in all types of buildings and train professionals to conduct such measurements according to proven efficacy standards. Health care professionals should also be informed about this threat and receive adequate training to deal with the effects of radon on human health.

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