KIAA1549: BRAF gene fusion and FGFR1 hotspot mutations are prognostic factors in pilocytic astrocytomas

Up to 20% of patients with pilocytic astrocytoma (PA) experience a poor outcome. BRAF alterations and Fibroblast growth factor receptor 1 (FGFR1) point mutations are key molecular alterations in Pas, but their clinical implications are not established. We aimed to determine the frequency and prognostic role of these alterations in a cohort of 69 patients with PAs. We assessed KIAA1549:BRAF fusion by fluorescence in situ hybridization and BRAF (exon 15) mutations by capillary sequencing. In addition, FGFR1 expression was analyzed using immunohistochemistry, and this was compared with gene amplification and hotspot mutations (exons 12 and 14) assessed by fluorescence in situ hybridization and capillary sequencing. KIAA1549:BRAF fusion was identified in almost 60% of cases. Two tumors harbored mutated BRAF. Despite high FGFR1 expression overall, no cases had FGFR1 amplifications. Three cases harbored a FGFR1 p.K656E point mutation. No correlation was observed between BRAF and FGFR1 alterations. The cases were predominantly pediatric (87%), and no statistical differences were observed in molecular alterations-related patient ages. In summary, we confirmed the high frequency of KIAA1549:BRAF fusion in PAs and its association with a better outcome. Oncogenic mutations of FGFR1, although rare, occurred in a subset of patients with worse outcome. These molecular alterations may constitute alternative targets for novel clinical approaches, when radical surgical resection is unachievable.This study was partially supported by CNPq/Universal (475358/2011-2), and FAPESP (2012/19590-0) grants to RMR and to the NIH- P30CA046934 (CCSG Molecular Pathology/Cytogenetics) to MVG and DL

Suspected malignant hyperthermia reaction during renal transplantation: a case report

Here, we report a suspected MH crisis in a renal transplantation recipient and present a review of cases reports of suspected MH crisis during solid organ transplants

Effects of Home-Based Electrical Stimulation on Plasma Cytokines Profile, Redox Biomarkers, and Metalloproteinases in the Heart Failure with Reduced Ejection Fraction: A Randomized Trial

Background: Low-frequency electrical stimulation (LFES) is an adjuvant method for heart failure (HF) patients with restrictions to start an exercise. However, the impact on molecular changes in circulating is unknown. We investigated the effects of 10 weeks of home-based LFES on plasma cytokines profile, redox biomarkers, metalloproteinases (MMPs) activity, and exercise performance in HF patients. Methods: Twenty-four HF patients (52.45 ± 9.15 years) with reduced ejection fraction (HFrEF) (EF 0.05). Conclusion: LFES protocol is a promising intervention to modulate MMPs activity in HFrEF patients, although with limited functional effects. These preliminary responses may help the muscle to adapt to future mechanical demands dynamically

Novas recomendações de espirometria da Sociedade Brasileira de Pneumologia e Tisiologia – atualização 2024

The latest pulmonary function guideline from the Brazilian Thoracic Association was published in 2002, since which there have been updates to international guidelines (mainly those from the European Respiratory Society and the American Thoracic Society), as well as new national and international publications on various aspects of the performance, interpretation, and clinical implications of spirometry. Despite those updates, a careful analysis of what applies to the reality in Brazil is essential, because there have been studies that evaluated individuals who are representative of our population and who could show responses different from those of individuals in other regions of the world. This document is the result of the work of a group of specialists in pulmonary function who evaluated relevant scientific articles that could be applicable to the population of Brazil. After the discussions, new spirometry guidelines were drawn up, covering various aspects such as its technical parameters and performance; its indications and contraindications; its interpretation; concepts of normality and their related variability; reference values; classification of functional severity; and response to an inhaled bronchodilator. Finally, the guidelines emphasize the need to always interpret spirometry results in the context of the clinical condition of the patient and of the pretest probability.Divisão de Pneumologia Instituto do Coração – InCor – Hospital das Clínicas Faculdade de Medicina Universidade de São Paulo, SPCoordenação de Pneumologia Rede D’Or, SPUnidade de Fisiologia Pulmonar Hospital de Clínicas de Porto Alegre Universidade Federal do Rio Grande do Sul, RSDisciplina de Pneumologia Departamento de Medicina EPM-Unifesp – Escola Paulista de Medicina Universidade Federal de São Paulo, SPSetor de Função Pulmonar e Fisiologia Clínica do Exercício – SEFICE – e Doenças da Circulação Pulmonar Escola Paulista de Medicina Universidade Federal de São Paulo, SPDisciplina de Pneumologia Faculdade de Ciências Médicas Universidade de Pernambuco – UPE, PEPrograma de Pós-Graduação Strictu Sensu Fundação De Ensino E Pesquisa Em Ciências Da Saúde ESCS/FEPECS, DFLaboratório de Função Pulmonar Avançada Hospital Sírio-Libanês, DFDisciplina de Pneumologia Curso de Medicina Universidade do Sul de Santa Catarina – UNISUL, SCLaboratório de Função Pulmonar Prefeitura de São José, SCDivisão de Pneumologia Faculdade de Medicina de Botucatu Universidade Estadual Paulista – UNESP, SPServiço de Pneumologia Hospital Sírio-Libanês, DFServiço de Pneumologia Hospital Universitário de Brasília Universidade de Brasília – HUB-UnB, DFHospital Sírio-Libanês, SPHospital Israelita Albert Einstein, SPHospital do Coração – HCor, SPFaculdade de Medicina Universidade Federal do Paraná, PRLaboratório de Função Pulmonar Complexo Hospital de Clínicas Universidade Federal do Paraná, PRLaboratório de Função Pulmonar Hospital Nossa Senhora das Graças, PRPulmonary Function Laboratory and Respiratory Investigation Unit Division of Respirology Kingston Health Science Center & Queen’s UniversityServiço de Pneumologia Hospital da Bahia, BAAmbulatório de Doenças Pulmonares Intersticiais Hospital Santa Izabel Santa Casa da Bahia, BAServiço de Pneumologia Hospital Santa Izabel Santa Casa da Bahia, BAServiço de Pneumologia Hospital Cárdio Pulmonar, BACentro de Fibrose Cística de Adultos Hospital Júlia Kubitschek Fundação Hospitalar do Estado de Minas Gerais – FHEMIG, MGFaculdade de Ciências Médicas Universidade de Alfenas – UNIFENAS, MGSetor de Função Pulmonar Rede D’Or, SPServiço de Pneumologia Hospital de Clínicas Universidade Estadual de Campinas – UNICAMP, SPDisciplina de Pneumologia Faculdade de Medicina do ABC, SPLaboratório de Função Pulmonar Faculdade de Medicina do ABC, SPDepartamento de Medicina Universidade Tiradentes, SELaboratório de Função Pulmonar Instituto de Assistência ao Servidor Público Estadual de São Paulo Francisco Morato Pereira – IAMSPE-FMO, SPServiço de Pneumologia e Laboratório de Função Pulmonar Hospital do Servidor Público Estadual de São Paulo – HSPE-IAMSPE, SPLaboratório de Função Pulmonar Clínica AMO – Assistência Multidisciplinar em Oncologia, BADivisão de Pneumologia Faculdade de Medicina de Botucatu Universidade Estadual Paulista – UNESP, S