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1.
Trop Dis Travel Med Vaccines ; 9(1): 19, 2023 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-37925466

RESUMO

BACKGROUND: Although SARS-CoV-2 vaccines are generally safe, there are growing concerns about their link to a potentially life-threatening multi-system inflammatory syndrome following vaccination (MIS-V). We conducted this systematic review to elucidate the prevalence of MIS, severity, treatment, and outcomes following SARS-CoV-2 vaccination. METHODS: We searched PubMed, Scopus, ScienceDirect, Google Scholar, Virtual Health Library (VHL), Cochrane Library, and Web of Science databases for articles and case reports about MIS-V. We performed a qualitative analysis of individual cases from the included studies. RESULTS: Of the 1366 studies identified by database search, we retrieved twenty-six case reports and two cohort studies. We analyzed the data of 37 individual cases extracted from 27 articles. The average age of the cases included in this review was 18 (1-67) years, with the most being male (M: F 3.1:1). Of the 37 included cases, the cardiovascular system was the most affected system by MIS (36, 97.3%), followed by the gastrointestinal tract (32, 86.5%). CONCLUSION: MIS after SARS-CoV-2 vaccinations can be fatal, but the incidence is low. Prompt recognition of MIS and ruling out the mimickers are critical in the patient's early recovery.

2.
Medicine (Baltimore) ; 102(20): e33836, 2023 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-37335685

RESUMO

Acute lymphoblastic leukemia (ALL) is a common cancer affecting children worldwide. The development of ALL is driven by several genes, some of which can be targeted for treatment by inhibiting gene fusions. PAX5 is frequently mutated in ALL and is involved in chromosomal rearrangements and translocations. Mutations in PAX5 interact with other genes, such as ETV6 and FOXP1, which influence B-cell development. PAX5/ETV6 has been observed in both B-ALL patients and a mouse model. The interaction between PAX5 and FOXP1 negatively suppresses the Pax5 gene in B-ALL patients. Additionally, ELN and PML genes have been found to fuse with PAX5, leading to adverse effects on B-cell differentiation. ELN-PAX5 interaction results in the decreased expression of LEF1, MB1, and BLNK, while PML-PAX5 is critical in the early stages of leukemia. PAX5 fusion genes prevent the transcription of the PAX5 gene, making it an essential target gene for the study of leukemia progression and the diagnosis of B-ALL.


Assuntos
Fator de Transcrição PAX5 , Leucemia-Linfoma Linfoblástico de Células Precursoras , Animais , Camundongos , Mutação , Proteínas de Fusão Oncogênica/genética , Proteínas de Fusão Oncogênica/metabolismo , Fator de Transcrição PAX5/genética , Fator de Transcrição PAX5/metabolismo , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Fatores de Transcrição/genética
3.
Egypt J Med Hum Genet ; 23(1): 97, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-37521836

RESUMO

Background: The angiotensin-converting enzyme-2 (ACE2) is recognized to be the fundamental receptor of severe acute respiratory syndrome coronavirus-2 (SARS-CoV2), responsible for the worldwide Coronavirus Disease-2019 (COVID-19) epidemic. However, genetic differences between people besides racial considerations and their relation to disease susceptibility are still not fully elucidated. Main body: To uncover the role of ACE2 in COVID-19 infection, we reviewed the published studies that explore the association of COVID-19 with the functional characteristics of ACE2 and its genetic variations. Notably, emerging studies tried to determine whether the ACE2 variants and/or expression could be associated with SARS-CoV/SARS-CoV2 have conflicting results. Some researchers investigated the potential of "population-specific" ACE2 genetic variations to impact the SARS-CoV2 vulnerability and suggested no ethnicity enrichment for ACE2 polymorphisms that could influence SARS-CoV2 S-protein binding. At the same time, some studies use data mining to predict several ACE2 variants that could enhance or decline susceptibility to SARS-CoV. On the other hand, fewer studies revealed an association of ACE2 expression with COVID-19 outcome reporting higher expression levels of ACE2 in East Asians. Conclusions: ACE2 gene variants and expression may modify the deleterious consequences of SARS-CoV2 to the host cells. It is worth noting that apart from the differences in gene expression and the genetic variations of ACE2, many other environmental and/or genetic factors could modify the disease outcome, including the genes for the innate and the adaptive immune response.

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