Introduction Although the prevalence of allergic diseases, including food allergies, has increased over recent decades, relevant information on this topic is still lacking, particularly in younger children living in small cities. Objective To investigate the prevalence of reported food allergies in preschoolers in Limoeiro/Pernambuco, Brazil. Methods This was a cross-sectional study with preschoolers. Parents/guardians of all preschoolers enrolled at municipal schools between March and June 2019 (total of 619) were invited to complete a screening questionnaire (total of 619). Another 151 questionnaires were applied on the streets of the town. For positive responses, a second, more detailed and validated questionnaire was completed. Results A total of 412 questionnaires were returned, of which, 47 presented a positive response to food allergies and only 29 (7.04%) identified a particular food. The most frequently reported food items were shrimp, mollusks, pork, fruit and milk. Of the 29 who identified foods, 22 responded to the detailed questionnaire, resulting in only 4 (0.97%) positive responses. Of these, two were later discarded through clinical examinations and an open oral provocation test, resulting in a final prevalence of 0.48% of confirmed food allergies. Conclusion The prevalence of reported food allergies was lower than that described in previous studies. The most commonly mentioned foods were shrimp, mollusks and pork, with more reports of multiple food allergies, even in children who had never been previously exposed to these possible allergens, which highlights the relevance of perception in reported food allergy studies.

We report on a patient conceived via in vitro fertilization (IVF) with a 22q11.2 deletion due to an unusual unbalanced translocation involving chromosomes 6 and 22 in a karyotype with 45 chromosomes. Cytogenomic studies showed that the patient has a 3.3-Mb deletion of chromosome 22q and a 0.4-Mb deletion of chromosome 6p, which resulted in haploinsufficiency of the genes responsible for the 22q11.2 deletion syndrome and also of the <i>IRF4</i> gene, a member of the interferon regulatory factor family of transcription factors, which is expressed in the immune system cells. The rearrangement could be due to the manipulation of the embryo or as a sporadic event unrelated to IVF. Translocation involving chromosome 22 in a karyotype with 45 chromosomes is a rare event, with no previous reports involving chromosomes 6p and 22q.

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Indivíduos afetados pela síndrome de Chediak-Higashi se apresentam clinicamente com diversas alterações orgânicas, a partir de mutações que afetam a função fagocitária e do gene regulador do tráfego lisossomal. A forma acelerada da síndrome cursa com uma série de alterações hematológicas e sistêmicas, sendo grave e usualmente incorrendo em morte precoce. O objetivo do artigo foi realizar uma pesquisa na literatura acerca da fase acelerada da síndrome de Chediak-Higashi. Foi realizada a busca nas bases de dados: PubMed, The Cochrane Library e SciELO, por estudos em humanos publicados em inglês, espanhol ou português nos últimos 15 anos. Devido a seu nível de gravidade, a síndrome de Chediak-Higashi demonstra a importância de seu conhecimento pelos profissionais médicos a fim de reduzir o número de subdiagnósticos, consequentemente diminuindo as taxas de mortalidade e promovendo melhora na qualidade de vida de seus portadores.