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2.
Cureus ; 14(12): e32946, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36578844

RESUMO

Peanut allergy has become more common among children and is considered one of the most common triggers for fatal anaphylaxis. Treatment of symptoms during a reaction is only one aspect of managing anaphylaxis; other elements include rigorous dietary avoidance and education about settings that could put the patient at a high risk of unintentional exposure. We aimed to review the prevalence, mechanism, diagnosis, treatment, and emergency action of peanut-induced anaphylaxis among children. We used a web-based literature search using the advanced features of databases such as PubMed, Scopus, Directory of Open Access Journals (DOAJ), Embase, Google Scholar, and Cochrane electronic databases. The most common food to cause fatal anaphylaxis and a common cause of food allergies is peanuts. Over the past two years, our knowledge improved more about peanut allergens, their prevalence, causes, diagnoses, and treatments. The research cited in this review demonstrates that the peanut allergens are most closely associated with disease differ across cultures, that early oral peanut exposure may reduce the occurrence of peanut allergy while early non-oral exposure may have the opposite effect, that complement activation by peanut constituents appears to promote peanut-induced anaphylaxis, and that oral immunotherapy, anti-IgE antibody, and a herbal formulation are all demonstrating promise as treatments. To conclude, peanut allergies have increased frequently during the past 10 years, especially in Westernized nations. Given that peanut allergy poses a danger for fatal anaphylaxis, response management is crucial. The current standard of care for those with nut allergies comprises complete food avoidance and the administration of injectable epinephrine to treat systemic symptoms.

3.
Genome Med ; 11(1): 38, 2019 06 17.
Artigo em Inglês | MEDLINE | ID: mdl-31203817

RESUMO

BACKGROUND: Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test. METHODS: In May 2013, we implemented exome sequencing in routine diagnostics for patients suffering from PIDs. This study reports the clinical utility and diagnostic yield for a heterogeneous group of 254 consecutively referred PID patients from 249 families. For the majority of patients, the clinical diagnosis was based on clinical criteria including rare and/or unusual severe bacterial, viral, or fungal infections, sometimes accompanied by autoimmune manifestations. Functional immune defects were interpreted in the context of aberrant immune cell populations, aberrant antibody levels, or combinations of these factors. RESULTS: For 62 patients (24%), exome sequencing identified pathogenic variants in well-established PID genes. An exome-wide analysis diagnosed 10 additional patients (4%), providing diagnoses for 72 patients (28%) from 68 families altogether. The genetic diagnosis directly indicated novel treatment options for 25 patients that received a diagnosis (34%). CONCLUSION: Exome sequencing as a first-tier test for PIDs granted a diagnosis for 28% of patients. Importantly, molecularly defined diagnoses indicated altered therapeutic options in 34% of cases. In addition, exome sequencing harbors advantages over gene panels as a truly generic test for all genetic diseases, including in silico extension of existing gene lists and re-analysis of existing data.


Assuntos
Sequenciamento do Exoma/métodos , Testes Genéticos/métodos , Doenças da Imunodeficiência Primária/genética , Adolescente , Adulto , Pré-Escolar , Feminino , Testes Genéticos/normas , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Doenças da Imunodeficiência Primária/diagnóstico , Sensibilidade e Especificidade , Sequenciamento do Exoma/normas
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