DSpace Collection: Nesta coleção estão indexados os artigos científicos publicados por autores, designados com a nomina IMIP.

An alternative method for screening fabry disease in women: partial results of a brazilian study.

2024-06-12T17:32:39Z

Title: An alternative method for screening fabry disease in women: partial results of a brazilian study. Authors: Silva, Cassiano Augusto; Ribeiro, Marcia Gonçalves; Silva, Artur Quintiliano; Gueiros, Ana Paula Santana; Petruccelli, Karla Cristina Silva; Pascotto, Roberta Correa; Boger, Marta Vaz Dias de Souza; Carvalho, Luiz Roberto; Lucca, Leandro Júnior; Sevignani, Gabriela; Neto, Osvaldo Merege Vieira; Barretto, Carolina Teles; Gordon, Gina Moreno; Veloso, Valeria Soares Pigozzi; Vieira, Fernando Antônio Freitas; Ennes, Gelzie Sorrentino; Souza, Eduarda Morgana da Silva Montenegro Malaguti de; Guedes, Felipe Leite; Barreto, Fellype; Andrade, Luis Gustavo Modelli de Abstract: Background and Aims: Fabry disease (FD) is a rare X-linked lysosomal storage disease that can affect multiple organs, including the kidneys. The main objective of this study was to evaluate the effectiveness of a combination of α-GAL enzyme activity and plasma levels of lyso-GL3 for screening FD in women with chronic kidney disease (CKD). Method: Women with CKD, stages 3 to 5, in regular nephrological follow-up were selected from renal centers in all regions of Brazil. Exclusion criteria: under 18 years old and known diagnosis of CKD. Patients underwent biochemical analysis of α-GAL enzyme activity and plasma levels of lyso-GL3. GLA gene sequencing was performed if α-GAL enzyme activity was below and/or lyso-GL3 levels were above the reference range. Sensitivity and specificity analyzes were performed to evaluate the performance of the combined biochemical approach for the diagnosis of FD. Results: From October 2020 to December 2022 1,647 collections were carried out. Low α-GAL activity was found in 44 (2.6%) of the cases and increased lyso-GL3 was found in 101 (6.1%) of the cases. The mean age was 53 [42 – 64] years. All cases of low α-GAL and/or increased lyso-GL3 were submitted to genetic analysis, and 6 positive cases were found. As for genetic variants, four patients have R118C, one A143T and other with T430G, all considered variants of uncertain significance (VUS). The sensitivity and specificity of α-GAL reduction for the detection of FD was 83.3% and 97.6%, respectively. As for the increase in lyso-GL3, the values were 16.6% and 93.9%, respectively. There were no cases that presented a concomitant increase in lyso-GL3 and a reduction in enzymatic activity. Conclusion: Preliminary results suggest that the combination of α-GAL enzymatic activity with lyso-GL3 measurement may be a good alternative for screening FD in women with CKD. A thorough medical evaluation is required to determine the pathogenicity of variants in these patients.

The infection profile and survival of children and adolescents with COVID-19 undergoing cancer treatment: a cohort study.

2024-06-12T17:15:14Z

Title: The infection profile and survival of children and adolescents with COVID-19 undergoing cancer treatment: a cohort study. Authors: Andrade-Lima, Ana Luiza Magalhães de; Lins, Mecneide Mendes; Borborema, Maria do Céu Diniz; Matos, Ana Paula Rodrigues; Oliveira, Kaline Maria Maciel de; Mello, Maria Júlia Gonçalves Abstract: Objective: The objective of this study was to evaluate the clinical evolution of coronavirus disease 2019 (COVID-19) in children and adolescents with cancer. Methods: Cohort involving patients undergoing cancer treatment, 19 years old and under, with the diagnosis of COVID-19 by real-time polymerase chain reaction, in a reference hospital, between March 2020 and November 2021. Data were collected from medical records and interviews with patients and/or guardians. The primary outcomes studied were severe/critical COVID-19 presentation, deaths from any cause and overall survival. The Cox proportional hazards multivariate regression analysis was performed to determine the risk of death. Results: Sixty-two participants were included, most (67.7%) were male, with a median age of 6.8 years. Severe/critical forms of COVID-19, observed in 24.2%, seemed to indicate that the pediatric population undergoing cancer treatment has a higher morbidity rate than the general pediatric population (8-9.2%). During follow-up (4.5-18 months), 20 patients (32.3%) completed their cancer treatment and 18 died (29%)-6 during hospitalization and 12 after discharge. In total 61.1% of deaths occurred within 63 days of a detectable real-time polymerase chain reaction. Patients with a higher risk of death presented with severe/critical COVID-19 [adjusted hazard risk (aHR): 8.51; 95% confidence interval (CI): 2.91-24.80; P < 0.00] solid tumors (aHR: 3.99; 95% CI: 1.43-11.12; P = 0.008) and diarrhea as a symptom of COVID-19 (aHR: 3.9; 95% CI: 1.23-12.73; P = 0.021). Conclusions: These findings support the impact that severe acute respiratory syndrome-associated coronavirus 2 infection has on the population of children and adolescents with cancer, not only regarding immediate severity but also in their survival rate. Further studies evaluating long-term outcomes of COVID-19 in children and adolescents with cancer should be encouraged.

Epidemiology of laryngeal cancer in Brazil: Historical data from 2000 to 2019

2024-06-12T16:57:00Z

Title: Epidemiology of laryngeal cancer in Brazil: Historical data from 2000 to 2019 Authors: Fonte, Ana Luiza Fassizoli da; Costa, Guilherme Jorge; Pinto, Rodrigo Alves; Mello, Maria Júlia Gonçalves de Abstract: Introduction: To determine the incidence, morbidity, and mortality rate of laryngeal cancer in two decades and its epidemiological, clinical, and histological characteristics by sex in Brazil. Methods: This ecological study used three reliable sources of secondary data: population- and hospital-based cancer registries and the national mortality database. All data available from 2000 to 2019 were considered. Results: The incidence of male laryngeal cancer decreased from 9.20 to 4.95 per 100,000 from 2000 to 2018, while mortality slightly decreased from 3.37 to 3.30 per 100,000 from 2000 to 2019. In the same period, the female incidence decreased from 1.26 to 0.48 per 100,000; however, mortality slightly increased from 0.34 to 0.36 per 100,000. Of 221,566 individuals with head and neck cancer, 27 % presented laryngeal cancer. The median age was 61 years (54-69), and most individuals were male (86.6 %), smokers (66.2 %), diagnosed with locally advanced cancer (66.7 %), and squamous cell carcinoma as the main histological type (93.2 %). Male tended to be older (p < 0.001), white (p < 0.001), smokers (p < 0.001), and present late treatment initiation (p < 0.001) and early death (p < 0.001) compared with female. Conclusion: The male laryngeal cancer affected mainly at productive age but with a decreased incidence, probably due to a reduction in smoking habit. However, mortality did not change, which may be explained by the late diagnosis and lack of access to radiotherapy.

Neutralizing antibodies against SARS-CoV-2 in Brazilian pregnant women vaccinated with one or two doses of BNT162b2 mRNA vaccine (Pfizer/Wyeth(TM))

2024-06-12T16:45:35Z

Title: Neutralizing antibodies against SARS-CoV-2 in Brazilian pregnant women vaccinated with one or two doses of BNT162b2 mRNA vaccine (Pfizer/Wyeth(TM)) Authors: Silva, Mauro César da; Silva, Neila Caroline Henrique da; Ferreira, Ana Laura Carneiro Gomes; Ferreira, Fernanda Carneiro Gomes; Melo, Maria Inês Bezerra de; Silva, Letícia Micherlyne Xavier da; Barbosa, Camila Rodrigues de Melo; Magalhães, Jurandy Júnior Ferraz de; Diniz, George Tadeu Nunes; Souza, Ariani Impieri; Lucena-Silva, Norma Abstract: Pregnant women have an increased risk of developing severe coronavirus disease. In Brazil, the number of hospitalizations and adverse outcomes, including death caused by COVID-19, in women during the pregnancy-puerperal cycle was high in the first pandemic year. Doubts regarding vaccines' efficacy and safety for the mother and fetus delayed vaccination. This study evaluated the generation of IgG titers and neutralizing antibodies to the BNT162b2 mRNA vaccine in 209 healthy pregnant women. For this, were used the QuantiVac ELISA (IgG) and SARS-CoV-2 NeutraLISA kits (EUROIMMUN, Lübeck, SH) following the manufacturer's recommendations. One dose vaccine produced anti-SARS-CoV-2 IgG in 85% (81/95), and two produced in 95% (76/80) women. Among unvaccinated women, four of 34 (12%) showed protection. The first dose of the BNT162b2 vaccine protected 69% of the women with neutralizing antibodies (median of %IH = 97). In the second dose, protection occurred in 94% of the pregnant women (median of IH% = 97). This study showed no differences in IgG antibody titers between one- and two-dose of the BNT162b2 mRNA vaccine groups, boosting with the second dose increased the number of women who produced specific IgG and neutralizing antibodies, raising by 114-folds the chance of producing the SARS-CoV-2 neutralizing antibodies compared to the unvaccinated pregnant woman, which may contribute to reduce the chance of severe COVID-19.