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1.
BMC Microbiol ; 24(1): 42, 2024 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-38287251

RESUMO

BACKGROUND: Atopic dermatitis (AD) patients have high rates of colonization by Staphylococcus aureus, which has been associated with worsening of the disease. This study characterized Staphylococcus spp isolates recovered from nares and feces of pediatric patients with AD in relation to antimicrobial susceptibility, staphylococcal cassette chromosome mec (SCCmec) type, presence of pvl genes and clonality. Besides, gut bacterial community profiles were compared with those of children without AD. RESULTS: All 55 AD patients evaluated had colonization by Staphylococcus spp. Fifty-three (96.4%) patients had colonization in both clinical sites, whereas one patient each was not colonize in the nares or gut. Staphylococcus aureus was identified in the nostrils and feces of 45 (81.8%) and 39 (70.9%) patients, respectively. Methicillin-resistant Staphylococcus spp. isolates were found in 70.9% of the patients, and 24 (43.6%) had methicillin-resistant S. aureus (MRSA). S. aureus (55.6%) and S. epidermidis (26.5%) were the major species found. The prevalent lineages of S. aureus were USA800/SCCmecIV (47.6%) and USA1100/SCCmecIV (21.4%), and 61.9% of the evaluated patients had the same genotype in both sites. Additionally, gut bacterial profile of AD patients exhibits greater dissimilarity from the control group than it does among varying severities of AD. CONCLUSIONS: High rates of nasal and intestinal colonization by S. aureus and methicillin-resistant staphylococci isolates were found in AD patients. Besides, gut bacterial profiles of AD patients were distinctly different from those of the control group, emphasizing the importance of monitoring S. aureus colonization and gut microbiome composition in AD patients.


Assuntos
Dermatite Atópica , Staphylococcus aureus Resistente à Meticilina , Infecções Estafilocócicas , Humanos , Criança , Staphylococcus aureus Resistente à Meticilina/genética , Staphylococcus aureus/genética , Dermatite Atópica/microbiologia , Coagulase , Staphylococcus/genética , Infecções Estafilocócicas/epidemiologia , Infecções Estafilocócicas/microbiologia , Staphylococcus epidermidis , Testes de Sensibilidade Microbiana , Antibacterianos/farmacologia
4.
BMC Genom Data ; 24(1): 47, 2023 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-37592284

RESUMO

BACKGROUND: Inherited genetic defects in immune system-related genes can result in Inborn Errors of Immunity (IEI), also known as Primary Immunodeficiencies (PID). Diagnosis of IEI disorders is challenging due to overlapping clinical manifestations. Accurate identification of disease-causing germline variants is crucial for appropriate treatment, prognosis, and genetic counseling. However, genetic sequencing is challenging in low-income countries like Brazil. This study aimed to perform genetic screening on patients treated within Brazil's public Unified Health System to identify candidate genetic variants associated with the patient's phenotype. METHODS: Thirteen singleton unrelated patients from three hospitals in Rio de Janeiro were enrolled in this study. Genomic DNA was extracted from the peripheral blood lymphocytes of each patient, and whole exome sequencing (WES) analyses were conducted using Illumina NextSeq. Germline genetic variants in IEI-related genes were prioritized using a computational framework considering their molecular consequence in coding regions; minor allele frequency ≤ 0.01; pathogenicity classification based on American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines gathered from the VarSome clinical database; and IEI-related phenotype using the Franklin tool. The genes classification into IEI categories follows internationally recognized guidelines informed by the International Union of Immunological Societies Expert Committee. Additional methods for confirmation of the variant included Sanger sequencing, phasing analysis, and splice site prediction. RESULTS: A total of 16 disease-causing variants in nine genes, encompassing six different IEI categories, were identified. X-Linked Agammaglobulinemia, caused by BTK variations, emerged as the most prevalent IEI disorder in the cohort. However, pathogenic and likely pathogenic variants were also reported in other known IEI-related genes, namely CD40LG, CARD11, WAS, CYBB, C6, and LRBA. Interestingly, two patients with suspected IEI exhibited pathogenic variants in non-IEI-related genes, ABCA12 and SLC25A13, potentially explaining their phenotypes. CONCLUSIONS: Genetic screening through WES enabled the detection of potentially harmful variants associated with IEI disorders. These findings contribute to a better understanding of patients' clinical manifestations by elucidating the genetic basis underlying their phenotypes.


Assuntos
Aconselhamento Genético , Testes Genéticos , Brasil/epidemiologia , Fenótipo , Frequência do Gene
5.
BMC Genom Data ; 24(1): 36, 2023 06 30.
Artigo em Inglês | MEDLINE | ID: mdl-37391719

RESUMO

OBJECTIVES: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants from whole-exome sequencing (WES) data comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available WES data of Brazilian patients' suspicion of IEI without a genetic diagnosis. We foresee a broad use of this dataset by the scientific community in order to provide a more accurate diagnosis of IEI disorders. DATA DESCRIPTION: Twenty singleton unrelated patients treated at four different hospitals in the state of Rio de Janeiro, Brazil were enrolled in our study. Half of the patients were male with mean ages of 9 ± 3, while females were 12 ± 10 years old. The WES was performed in the Illumina NextSeq platform with at least 90% of sequenced bases with a minimum of 30 reads depth. Each sample had an average of 20,274 variants, comprising 116 classified as rare pathogenic or likely pathogenic according to American College of Medical Genetics and Genomics and the Association (ACMG) guidelines. The genotype-phenotype association was impaired by the lack of detailed clinical and laboratory information, besides the unavailability of molecular and functional studies which, comprise the limitations of this study. Overall, the access to clinical exome sequencing data is limited, challenging exploratory analyses and the understanding of genetic mechanisms underlying disorders. Therefore, by making these data available, we aim to increase the number of WES data from Brazilian samples despite contributing to the study of monogenic IEI-disorders.


Assuntos
Afeto , Genômica , Masculino , Feminino , Humanos , Brasil/epidemiologia , Sequenciamento do Exoma , Hospitais , Doenças Raras
6.
J. pediatr. (Rio J.) ; 99(supl.1): S22-S27, Mar.-Apr. 2023.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1430721

RESUMO

Abstract Objectives: Since the beginning of its use for the prevention of tuberculosis (TB) in 1921, other uses of BCG (Bacillus Calmette-Guérin) have been proposed, particularly in the treatment of malignant solid tumors, multiple sclerosis, and other autoimmune diseases. Its beneficial impact on other infections, by nontuberculous mycobacteria, and by viruses, has been more often studied in recent years, especially after the introduction of the concept of trained immunity. The present study's objective was to review the possible indications of BCG and the immunological rationale for these indications. Data source: Non-systematic review carried out in the PubMed, SciELO and Google Scholar databases, using the following search terms: "BCG" and "history", "efficacy", "use", "cancer", "trained immunity", "other infections", "autoimmune diseases". Data synthesis: There is epidemiological evidence that BCG can reduce overall child morbidity/mortality beyond what would be expected from TB control. BCG is able to promote cross-immunity with nontuberculous mycobacteria and other bacteria. BCG promotes in vitro changes that increase innate immune response to other infections, mainly viral ones, through mechanisms known as trained immunity. Effects on cancer, except bladder cancer, and on autoimmune and allergic diseases are debatable. Conclusions: Despite evidence obtained from in vitro studies, and some epidemiological and clinical evidence, more robust evidence of in vivo efficacy is still needed to justify the use of BCG in clinical practice, in addition to what is recommended by the National Immunization Program for TB prevention and bladder cancer treatment.

7.
J Pediatr (Rio J) ; 99 Suppl 1: S22-S27, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36309066

RESUMO

OBJECTIVES: Since the beginning of its use for the prevention of tuberculosis (TB) in 1921, other uses of BCG (Bacillus Calmette-Guérin) have been proposed, particularly in the treatment of malignant solid tumors, multiple sclerosis, and other autoimmune diseases. Its beneficial impact on other infections, by nontuberculous mycobacteria, and by viruses, has been more often studied in recent years, especially after the introduction of the concept of trained immunity. The present study's objective was to review the possible indications of BCG and the immunological rationale for these indications. DATA SOURCE: Non-systematic review carried out in the PubMed, SciELO and Google Scholar databases, using the following search terms: "BCG" and "history", "efficacy", "use", "cancer", "trained immunity", "other infections", "autoimmune diseases". DATA SYNTHESIS: There is epidemiological evidence that BCG can reduce overall child morbidity/mortality beyond what would be expected from TB control. BCG is able to promote cross-immunity with nontuberculous mycobacteria and other bacteria. BCG promotes in vitro changes that increase innate immune response to other infections, mainly viral ones, through mechanisms known as trained immunity. Effects on cancer, except bladder cancer, and on autoimmune and allergic diseases are debatable. CONCLUSIONS: Despite evidence obtained from in vitro studies, and some epidemiological and clinical evidence, more robust evidence of in vivo efficacy is still needed to justify the use of BCG in clinical practice, in addition to what is recommended by the National Immunization Program for TB prevention and bladder cancer treatment.


Assuntos
Tuberculose , Neoplasias da Bexiga Urinária , Criança , Humanos , Vacina BCG/uso terapêutico , Tuberculose/prevenção & controle , Imunidade Inata , Neoplasias da Bexiga Urinária/tratamento farmacológico
8.
PLoS One ; 17(11): e0276960, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36327238

RESUMO

BACKGROUND: Atopic dermatitis (AD) primarily affects the pediatric population, which is highly colonized by S. aureus. However, little is known about the genetic features of this microorganism and other staphylococcal species that colonize AD patients. OBJECTIVE: This study aimed to characterize Staphylococcus spp. isolated from the nares and skin (with and without lesion) of 30 AD and 12 non-AD Brazilian children. METHODS: Skin and nasal swabs were cultured onto mannitol salt agar, and bacterial colonies were counted and identified by matrix assisted laser desorption ionization time of flight mass spectrometry and polymerase chain reaction (PCR). Antimicrobial susceptibility was evaluated by phenotypic and genotypic tests. In S. aureus isolates, Panton-Valentine leukocidin genes were detected by PCR, and their clonality was assessed by pulsed-field gel electrophoresis and multilocus sequence typing. RESULTS: S. aureus was more prevalent in the nares (P = 0.005) and lesional skin (P = 0.0002) of children with AD, while S. hominis was more frequent in the skin of non-AD children (P < 0.0001). All children in the study, except one from each group, were colonized by methicillin-resistant coagulase-negative Staphylococcus and 24% by methicillin-resistant S. aureus. Despite the great clonal diversity of S. aureus (18 sequence types identified), most AD children (74.1%) were colonized by the same genotype in both niches. CONCLUSION: High colonization by polyclonal S. aureus isolates was found among children with AD, while S. hominis was more frequent among non-AD children. The high prevalence of methicillin-resistant staphylococcal isolates highlights the importance of continued surveillance, especially when considering empiric antibiotic therapy for the treatment of skin infections in these patients.


Assuntos
Dermatite Atópica , Staphylococcus aureus Resistente à Meticilina , Infecções Estafilocócicas , Humanos , Criança , Staphylococcus aureus/genética , Meticilina , Resistência a Meticilina , Dermatite Atópica/epidemiologia , Brasil/epidemiologia , Testes de Sensibilidade Microbiana , Infecções Estafilocócicas/microbiologia , Staphylococcus
9.
J. pediatr. (Rio J.) ; 98(5): 444-454, Sept.-Oct. 2022. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1405485

RESUMO

Abstract Objective To review, critically analyze and synthesize knowledge from the international literature regarding the association between allergic rhinitis (AR) and sleep disorders, the impact of AR treatment on children's sleep, and lay the foundation for future research on this topic. Source of data A literature search using PubMed database including original and review articles, systematic reviews and meta-analyses using keywords related to AR, sleep disorders and sleep-disordered breathing. Synthesis of data Sleep is fundamental to health, and its assessment and control of conditions that trigger or aggravate disturbances are of the uttermost importance. Allergic rhinitis (AR) is common in children and may interfere with both their quality of life and quality of sleep. It has emerged as one of the most important risk factors for habitual snoring in children and appeared to increase the risk of Obstructive Sleep Apnea (OSA), with AR severity exhibiting a significant and independent association with pediatric OSA severity. However, in some studies, those associations between AR and OSA in children are not very consistent. Conclusions A substantial level of controversy exists regarding the interactions between AR and OSA in children. Notwithstanding, identifying and treating AR in clinical settings is probably an important step toward improving symptoms and preventing deterioration of sleep quality in children and may improve the severity of underlying OSA. Considering the high prevalence, morbidity, economic and social implications of both AR and sleep problems, it is crucial that healthcare providers improve their understanding of the relationships between those conditions among children.

10.
Arq. Asma, Alerg. Imunol ; 6(2): 151-169, abr.jun.2022. ilus
Artigo em Inglês, Português | LILACS | ID: biblio-1400194

RESUMO

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.


Assuntos
Humanos , Terapêutica , Classificação , Diagnóstico , Angioedemas Hereditários , Qualidade de Vida , Asfixia , Sinais e Sintomas , Sociedades Médicas , Preparações Farmacêuticas , Glicoproteínas , Edema Laríngeo , Alergia e Imunologia , Mutação
11.
Arq. Asma, Alerg. Imunol ; 6(2): 170-196, abr.jun.2022. ilus
Artigo em Inglês, Português | LILACS | ID: biblio-1400199

RESUMO

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.


Assuntos
Humanos , Tratamento Farmacológico , Angioedemas Hereditários , Anticorpos Monoclonais Humanizados , Antagonistas dos Receptores da Bradicinina , Pacientes , Qualidade de Vida , Terapêutica , Bradicinina , Preparações Farmacêuticas , Calicreínas , Medicamentos de Referência
12.
BMC Pediatr ; 22(1): 181, 2022 04 05.
Artigo em Inglês | MEDLINE | ID: mdl-35382780

RESUMO

BACKGROUND: X-linked agammaglobulinemia (XLA) is an Inborn Errors of Immunity (IEI) characterized by pan-hypogammaglobulinemia and low numbers of B lymphocytes due to mutations in BTK gene. Usually, XLA patients are not susceptible to respiratory tract infections by viruses and do not present interstitial lung disease (ILD) such as bronchiolitis obliterans (BO) as a consequence of acute or chronic bacterial infections of the respiratory tract. Although many pathogenic variants have already been described in XLA, the heterogeneous clinical presentations in affected patients suggest a more complex genetic landscape underlying this disorder. CASE PRESENTATION: We report two pediatric cases from male siblings with X-Linked Agammaglobulinemia and bronchiolitis obliterans, a phenotype not often observed in XLA phenotype. The whole-exome sequencing (WES) analysis showed a rare hemizygous missense variant NM_000061.2(BTK):c.1751G>A(p.Gly584Glu) in BTK gene of both patients. We also identified a gain-of-function mutation in TGFß1 (rs1800471) previously associated with transforming growth factor-beta1 production, fibrotic lung disease, and graft fibrosis after lung transplantation. TGFß1 plays a key role in the regulation of immune processes and inflammatory response associated with pulmonary impairment. CONCLUSIONS: Our report illustrates a possible role for WES in patients with known inborn errors of immunity, but uncommon clinical presentations, providing a personalized understanding of genetic basis, with possible implications in the identification of potential treatments, and prognosis for patients and their families.


Assuntos
Agamaglobulinemia , Bronquiolite Obliterante , Doenças Genéticas Ligadas ao Cromossomo X , Tirosina Quinase da Agamaglobulinemia/genética , Agamaglobulinemia/complicações , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/genética , Criança , Análise Mutacional de DNA , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Masculino , Mutação , Irmãos
13.
Int Arch Allergy Immunol ; 183(5): 572-577, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35325890

RESUMO

BACKGROUND: Acquired deficiency of C1 inhibitor (AAE-C1-INH) is a very rare cause of recurrent angioedema, with few cases reported in the literature. We aimed to describe a series of patients with AAE-C1-INH who were diagnosed and received care at angioedema reference centers in Brazil, affiliated to the Brazilian Group of Studies on Hereditary Angioedema. METHODS: Fourteen patients from 8 Brazilian Angioedema Reference Centers, diagnosed with AAE-C1-INH, were included in this study. Clinical data collected included sex, date of birth, date of onset of symptoms, date of diagnosis, plasma levels of antigenic and/or functional C1-INH, levels of C4 and C1q, location and treatment of angioedema attacks, long-term prophylaxis, associated diseases, and definitive treatment. RESULTS: Fourteen patients were identified with AAE-C1-INH. Most patients (10/14; 71.4%) were female. The median age at onset of symptoms was 56.5 years (range, 14-74 years; interquartile range [IQR], 32-64 years), and median age at diagnosis was 58.0 years (range, 20-76 years; IQR, 38-65 years), with a median time until diagnosis of 2 years (range, 0-6 years; IQR, 1-3 years). The most common manifestations were cutaneous (face, eyelids, lips, trunk, hands, feet, and genitals). Most patient had low levels of C4 (13/14; 92.8%) and of antigenic C1-INH (8/14; 57.1%). Four had decreased functional activity of C1-INH (4/7; 57.1%) and C1q levels were low in 5 patients (5/12; 41.6%). Underlying diseases were identified in all 14 patients, with lymphoma of the splenic marginal zone and monoclonal gammopathy of undetermined significance being the most frequent. Nine patients (64.2%) needed long-term prophylactic treatment for recurrent angioedema and 5 patients (46.7%) required treatment for angioedema attacks. Most of them (12/14; 85.7%) had resolution of angioedema. CONCLUSION: Therapy of AAE-C1-INH aims to control symptoms; however, diagnosis and treatment of the underlying disease, when present, should be an important target and may lead to the resolution of angioedema in patients with AAE-C1-INH.


Assuntos
Angioedema , Angioedemas Hereditários , Adolescente , Adulto , Idoso , Angioedema/diagnóstico , Angioedema/etiologia , Angioedemas Hereditários/terapia , Brasil/epidemiologia , Proteína Inibidora do Complemento C1/genética , Complemento C1q/uso terapêutico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
14.
Arq. Asma, Alerg. Imunol ; 6(1): 58-62, jan.mar.2022. ilus
Artigo em Inglês, Português | LILACS | ID: biblio-1400101

RESUMO

A Associação Brasileira de Alergia e Imunologia (ASBAI) se manifesta totalmente favorável à imunização contra a COVID-19 em indivíduos entre 5 e 11 anos, para a proteção não somente deste grupo, mas também de seus conviventes. A vacinação de crianças, demonstrada sua eficácia e segurança, é fundamental para o controle da circulação do vírus e proteção de indivíduos cuja resposta vacinal pode não ocorrer de modo eficiente, como os imunocomprometidos e idosos. A imunização de pessoas entre 5 e 11 anos deve ser uma estratégia de saúde pública fundamental para o controle da pandemia que nos assola desde março de 2020 com todas as suas graves consequências para a saúde pública e a economia.


The Brazilian Association of Allergy and Immunology (ASBAI) is totally in favor of immunization against COVID-19 in individuals between 5 and 11 years old, for the protection not only of this group, but also of their cohabitants. The vaccination of children, once its efficacy and safety has been demonstrated, is essential for controlling the circulation of the virus and protecting individuals whose vaccine response may not occur efficiently, such as the immunocompromised and the elderly. The immunization of people between the ages of 5 and 11 must be a fundamental public health strategy to control the pandemic that has been plaguing us since March 2020 with all its serious consequences for public health and the economy.


Assuntos
Humanos , Pré-Escolar , Criança , COVID-19 , Vacina BNT162 , Sociedades Médicas , Imunização , Estratégias de Saúde , Pandemias , Fatores de Proteção , Vacinas contra COVID-19
17.
J Clin Immunol ; 42(3): 514-526, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34982304

RESUMO

CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.


Assuntos
Ligante de CD40 , Síndromes de Imunodeficiência , Ligante de CD40/genética , Estudos de Coortes , Humanos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/terapia , América Latina/epidemiologia , Estudos Retrospectivos
18.
J Pediatr (Rio J) ; 98(5): 444-454, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34979134

RESUMO

OBJECTIVE: To review, critically analyze and synthesize knowledge from the international literature regarding the association between allergic rhinitis (AR) and sleep disorders, the impact of AR treatment on children's sleep, and lay the foundation for future research on this topic. SOURCE OF DATA: A literature search using PubMed database including original and review articles, systematic reviews and meta-analyses using keywords related to AR, sleep disorders and sleep-disordered breathing. SYNTHESIS OF DATA: Sleep is fundamental to health, and its assessment and control of conditions that trigger or aggravate disturbances are of the uttermost importance. Allergic rhinitis (AR) is common in children and may interfere with both their quality of life and quality of sleep. It has emerged as one of the most important risk factors for habitual snoring in children and appeared to increase the risk of Obstructive Sleep Apnea (OSA), with AR severity exhibiting a significant and independent association with pediatric OSA severity. However, in some studies, those associations between AR and OSA in children are not very consistent. CONCLUSIONS: A substantial level of controversy exists regarding the interactions between AR and OSA in children. Notwithstanding, identifying and treating AR in clinical settings is probably an important step toward improving symptoms and preventing deterioration of sleep quality in children and may improve the severity of underlying OSA. Considering the high prevalence, morbidity, economic and social implications of both AR and sleep problems, it is crucial that healthcare providers improve their understanding of the relationships between those conditions among children.


Assuntos
Rinite Alérgica , Síndromes da Apneia do Sono , Apneia Obstrutiva do Sono , Transtornos do Sono-Vigília , Criança , Humanos , Qualidade de Vida , Rinite Alérgica/complicações , Rinite Alérgica/epidemiologia , Síndromes da Apneia do Sono/complicações , Apneia Obstrutiva do Sono/complicações , Transtornos do Sono-Vigília/complicações
19.
Allergol Immunopathol (Madr) ; 49(5): 42-48, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34476921

RESUMO

The Phadiatop Infant® (PhInf) is a panel developed to assess allergic sensitization (immunoglobulin E [IgE]) in children aged <5 years and combines inhalant and food allergens. The test has not been evaluated outside Europe. This is a cross-sectional study conducted at 11 pediatric allergy centers to evaluate PhInf as an allergic disease screening method in Brazilian children. Children as controls and patients (aged 6 months-18 years) were grouped according to their primary disease and age group. PhInf and specific serum IgE (sIgE) screening was performed for Dermatophagoides pteronyssinus (DP), cat and dog epithelia, a mix of grasses and pollens, eggs, cow's milk, peanuts, and shrimp. Values ≥ 0.35 kUA/L (or PAU/L) were considered positive. A total of 470 children and adolescents, which included 385 patients and 85 controls, participated in the study (47.7% boys, average age: 6.3 years). In all, 72.6% of the participants had positive PhInf test (n = 341), with a higher proportion of those having food allergy (92.6%), atopic dermatitis (91.9%), and those aged >13 years having allergy (95%). The PhInf and sIgE agreement between patients (Kappa = 0.94, P < 0.001) and controls (Kappa = 0.84, P < 0.001) was high. PhInf and DP agreement in patients aged >13 years was excellent (Kappa = 0.936, P < 0.001). Compared with sIgE dosage, PhInf had high sensitivity (97%) and specificity (93%). Positivity of PhInf test in this population was high and had an excellent correlation with the allergens comprising the panel. It is a useful method for screening children suspected of having allergic diseases in a non-European country.


Assuntos
Hipersensibilidade Alimentar , Laboratórios , Adolescente , Alérgenos , Animais , Gatos , Bovinos , Estudos Transversais , Cães , Feminino , Hipersensibilidade Alimentar/diagnóstico , Hipersensibilidade Alimentar/epidemiologia , Humanos , Imunoglobulina E , Lactente
20.
Allergol. immunopatol ; 49(5): 42-48, sept. 2021. tab, graf
Artigo em Inglês | IBECS | ID: ibc-214765

RESUMO

The Phadiatop Infant® (PhInf) is a panel developed to assess allergic sensitization (immunoglobulin E [IgE]) in children aged <5 years and combines inhalant and food allergens. The test has not been evaluated outside Europe. This is a cross-sectional study conducted at 11 pediatric allergy centers to evaluate PhInf as an allergic disease screening method in Brazilian children. Children as controls and patients (aged 6 months–18 years) were grouped according to their primary disease and age group. PhInf and specific serum IgE (sIgE) screening was performed for Dermatophagoides pteronyssinus (DP), cat and dog epithelia, a mix of grasses and pollens, eggs, cow’s milk, peanuts, and shrimp. Values ≥ 0.35 kUA/L (or PAU/L) were considered positive. A total of 470 children and adolescents, which included 385 patients and 85 controls, participated in the study (47.7% boys, average age: 6.3 years). In all, 72.6% of the participants had positive PhInf test (n = 341), with a higher proportion of those having food allergy (92.6%), atopic dermatitis (91.9%), and those aged >13 years having allergy (95%). The PhInf and sIgE agreement between patients (Kappa = 0.94, P < 0.001) and controls (Kappa = 0.84, P < 0.001) was high. PhInf and DP agreement in patients aged >13 years was excellent (Kappa = 0.936, P < 0.001). Compared with sIgE dosage, PhInf had high sensitivity (97%) and specificity (93%). Positivity of PhInf test in this population was high and had an excellent correlation with the allergens comprising the panel. It is a useful method for screening children suspected of having allergic diseases in a non-European country (AU)


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Hipersensibilidade/diagnóstico , Alérgenos , Hipersensibilidade Alimentar/diagnóstico , Estudos de Casos e Controles , Estudos Transversais , Imunoglobulina E , Laboratórios
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