FERNANDO PEREIRA FRASSETTO
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Unidades Organizacionais
8 resultados
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- Systemic dengue infection associated with a new dengue virus type 2 introduction in Brazil - a case report(2021) CUNHA, Marielton dos Passos; DUARTE-NETO, Amaro Nunes; POUR, Shahab Zaki; HAJJAR, Ludhmila Abrahao; FRASSETTO, Fernando Pereira; DOLHNIKOFF, Marisa; SALDIVA, Paulo Hilario do Nascimento; ZANOTTO, Paolo Marinho de AndradeBackgroundDengue infection is caused by an arbovirus with a wide range of presentations, varying from asymptomatic disease to unspecific febrile illness and haemorrhagic syndrome with shock, which can evolve to death. In Brazil, the virus circulates since the 1980s with many introductions of new serotypes, genotypes, and lineages since then. Here we report a fatal case of dengue associated with a Dengue virus (DENV) lineage not detected in the country until now.Case presentationThe patient, a 58-year-old man arrived at the hospital complaining of fever and severe abdominal pain due to intense gallbladder edema, mimicking acute abdomen. After 48h of hospital admission, he evolved to refractory shock and death. DENV RNA was detected in all tissues collected (heart, lung, brain, kidney, spleen, pancreas, liver, and testis). Viral sequencing has shown that the virus belongs to serotype 2, American/Asian genotype, in a new clade, which has never been identified in Brazil before. The virus was phylogenetically related to isolates from central America [Puerto Rico (2005-2007), Martinique (2005), and Guadeloupe (2006)], most likely arriving in Brazil from Puerto Rico.ConclusionIn summary, this was the first fatal documented case with systemic dengue infection associated with the new introduction of Dengue type 2 virus in Brazil during the 2019 outbreak.
- Oncocytic Meningioma: Case Report of a Rare Meningioma Variant(2023) CASAL, Yuri Reis; TEIXEIRA, Livia Porto; BANDEIRA, Gabriela Alencar; PORCEBAN, Matheus Moreli; PAIVA, Wellingson Silva; GODOY, Luis Filipe de Souza; YAMAKI, Vitor Nagai; LUCATO, Leandro Tavares; ALVES, Venancio Avancini Ferreira; FRASSETTO, Fernando PereiraOncocytic meningioma has been first identified in 1997 as a rare meningioma variant, composed predominantly of large meningothelial cells with abundant intracytoplasmic mitochondria. Here, we describe a 34-year-old male patient presenting with 2 weeks of progressive holocranial headache. Brain magnetic resonance imaging (MRI) revealed an extra axial solid-cystic expansive lesion in the left parieto-occipital parasagittal region, with intense vascularization. Histological and immunohistochemical analysis established the diagnosis. We also review briefly the pathological and radiological findings of this rare variant of meningioma as described in the literature.
- Myasthenia Gravis Related to Thymic Carcinoma: A Case Study(2020) LOPES, Daniel Thomas Pereira; GOMES, Samila Marissa Pinheiro; SIQUEIRA, Sheila Aparecida Coelho; FRASSETTO, Fernando Pereira; SAMPAIO, Pedro Henrique Martins Arruda; MORENO, Cristiane Araujo Martins; ROCHA, Maria Sheila Guimaraes; ESTEPHAN, Eduardo PaulaMyasthenia gravis and thymoma are often presented in association with similar to 10% of myasthenic cases having concomitant thymoma. Thymic carcinoma is one of the rarest/aggressive human epithelial tumors and has no correlation with myasthenia gravis hitherto. Here is provided a clinical case and review of literature on a very rare association of thymic carcinoma (with no sign of thymoma) and myasthenia gravis (antiacetylcholine receptor antibody positive). Two years after thymectomy, clinical evolution was satisfactory. This clinical case elicits hypothesis that thymic carcinoma may be related with myasthenia gravis, what may have good prognostic from oncologic and neurologic perspectives.
- Loss of an eye to mucormycosis following corticosteroid therapy for COVID-19(2022) RODRIGUES, M. G.; SEKIGUCHI, W. K.; GONçALVES, S.; CASAL, Y. R.; FRASSETTO, F. P.; SILVA, V. T. G. da; SANTO, M. P. D. E.; MAGRI, M. M. C.Mucormycosis is a rare, sometimes severe fungal infection that has emerged as a possible complication of COVID-19. We report a case of a non-diabetic, apparently immunocompetent patient diagnosed with rhino-orbital-cerebral mucormycosis shortly after COVID-19 treatment with dexamethasone. The patient received optimized systemic antifungal therapy and extensive surgical treatment. So far, four months after the last hospital discharge, the patient has been in good general condition. This case is a dramatic reminder that beneficial corticosteroid therapy in general inevitably carries a risk of opportunistic infection, and corticosteroid therapy for COVID-19 risks orbital-rhinocerebral mucormycosis that clinicians should watch for with vigilance. © 2021 The Author(s).
- Neuropathology of yellow fever autopsy cases(2023) FRASSETTO, Fernando Pereira; ROSEMBERG, SergioBackgroundYellow fever is a viral hemorrhagic fever caused by yellow fever virus, a mosquito-borne flavivirus. Despite an effective vaccine, major outbreaks continue to occur around the world. Even though it is not a proven neurotropic virus, neurological symptoms in more severe clinical forms are frequent. The understanding of this apparent paradox is still rarely addressed in literature.MethodsThe brains of thirty-eight patients with yellow fever confirmed by RT-PCR, who underwent autopsy, were analyzed morphologically to identify and characterize neuropathological changes. The data were compared with brains collected from individuals without the disease, as a control group. Both cases and controls were subdivided according to the presence or absence of co-concurrent septic shock, to exclude changes of the sepsis associated encephalopathy. To verify possible morphological differences between the yellow fever cases groups, between the control groups, and between the cases and the controls, we applied the statistical tests Fisher's exact test and chi-square, with p values < 0.05 considered statistically significant.ResultsAll cases and controls presented, at least focally, neuropathological changes, which included edema, meningeal and parenchymal inflammatory infiltrate and hemorrhages, and perivascular inflammatory infiltrate. We did not find an unequivocal aspect of encephalitis. The only parameter that, after statistical analysis, can be attributed to yellow fever was the perivascular inflammatory infiltrate.ConclusionsThe neuropathological findings are sufficient to justify the multiple clinical neurologic disturbances detected in the YF cases. Since most of the parameters evaluated did not show statistically significant difference between cases and controls, an explanation for most of the neuropathological findings may be the vascular changes, consequent to shock induced endotheliopathy, associated with stimulation of the immune system inherent to systemic infectious processes. The statistical difference obtained in yellow fever cases regarding perivascular infiltrate can be can be explained by the immune activation inherent to the condition.
- Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant(2022) LABELLO, Julia Haddad; BENEDETTI, Anna Flavia Figueredo; AZEVEDO, Bruna Viscardi; JORGE, Alexander Augusto de Lima; CESCATO, Valter Angelo Sperling; ROSEMBERG, Sergio; FRASSETO, Fernando Pereira; ARNHOLD, Ivo Jorge Prado; CARVALHO, Luciani Renata Silveira deWe present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T). In this autosomal dominant form of growth hormone deficiency (type II), exon 3 skipping results in expression of the 17.5 kDa isoform of growth hormone, which has a dominant negative effect over the bioactive isoform, is retained in the endoplasmic reticulum, disrupts the Golgi apparatus, and impairs the secretion of other pituitary hormones in addition to growth hormone deficiency.This mechanism led to the progression of central hypothyroidism in the same patient. After 5 years of growth and thyroid hormone replacement, at the age of 33, laboratory evaluation for increased weight gain revealed high serum and urine cortisol concentrations, which could not be suppressed with dexamethasone. Magnetic resonance imaging of the sella turcica detected a pituitary macroadenoma, which was surgically removed. Histological examination confirmed an adrenocorticotropic hormone (ACTH)-secreting pituitary macroadenoma. A ubiquitin-specific peptidase 8 (USP8) somatic pathogenic variant (c.2159C>G/p.Pro720Arg) was found in the tumor. In conclusion, we report progression of isolated growth hormone deficiency due to a germline GH1 variant to combined pituitary hormone deficiency followed by hypercortisolism due to an ACTH-secreting macroadenoma with a somatic variant in USP8 in the same patient. Genetic studies allowed etiologic diagnosis and prognosis of this unique case.
- Extranodal NK/T-cell lymphoma, nasal type with extensive cardiopulmonary involvement(2021) MARQUES-PIUBELLI, M. L.; SALES, G. T. M.; CLEMENTE, L. C.; ROSA, L. I.; SAVIOLI, M. L.; ALVIM, R. P.; MOREIRA, R. M.; FRASSETTO, F. P.; NASCIMENTO, E. C. T. Do; SIQUEIRA, S. A. C.Extranodal NK/T-cell lymphoma, nasal type (ENKTL-NT) is a rare type of Non-Hodgkin’s lymphoma, which usually presents with extranodal involvement and affects the nasal/upper aerodigestive tract in the classical presentation. Herein, we report the case of a 31-year-old, previously healthy, male patient diagnosed with ENKTL-NT with the involvement of the lung parenchyma and heart. Unfortunately, due to the rapid disease progression, the diagnosis was performed only at the autopsy. The authors highlight the rare clinical presentation of this type of lymphoma, as well as the challenging anatomopathological diagnosis in necrotic samples. © 2020 The Authors.
- Study of major genetic factors involved in pituitary tumorigenesis and their impact on clinical and biological characteristics of sporadic somatotropinomas and non-functioning pituitary adenomas(2018) FOLTRAN, R.K.; AMORIM, P.V.G.H.; DUARTE, F.H.; GRANDE, I.P.P.; FREIRE, A.C.T.B.; FRASSETTO, F.P.; DETTONI, J.B.; ALVES, V.A.; CASTRO, I.; TRARBACH, E.B.; BRONSTEIN, M.D.; JALLAD, R.S.Genetic and functional aberrations of guanine nucleotide-binding protein, alpha stimulating (GNAS), aryl hydrocarbon receptor interacting protein (AIP), and pituitary tumor transforming gene (PTTG) are among the most prominent events in pituitary tumorigenesis. A cohort of Brazilian patients with somatotropinomas (n=41) and non-functioning pituitary adenomas (NFPA, n=21) from a single tertiary-referral center were evaluated for GNAS and AIP mutations and gene expression of AIP and PTTG. Results were compared to the clinical and biological (Ki67 and p53 expression) characteristics of tumors and their response to therapy, if applicable. Genetic analysis revealed that 27% of somatotropinomas and 4.8% of NFPA harbored GNAS mutations (P=0.05). However, no differences were observed in clinical characteristics, tumor extension, response to somatostatin analog therapy, hormonal/surgical remission rates, Ki67 index, and p53 expression between mutated and non-mutated somatotropinomas patients. PTTG overexpression (RQ mean=10.6, min=4.39, max=11.9) and AIP underexpression (RQ mean=0.56, min=0.46-max=0.92) were found in virtually all cases without a statistically significant relationship with clinical and biological tumor features. No patients exhibited somatic or germline pathogenic AIP mutations. In conclusion, mutations in GNAS and abnormal PTTG and AIP expression had no impact on tumor features and treatment outcomes in this cohort. Our data support some previous studies and point to the need for further investigations, probably involving epigenetic and transcriptome analysis, to improve our understanding of pituitary tumor behavior.