ABSTRACT
ABSTRACT Objective To analyze the karyotype test and myeloid panel with next-generation sequencing findings in patients with myelofibrosis, and to compare transplant characteristics in patients referred for bone marrow transplantation. Methods Retrospective, single-center study with patients diagnosed with myelofibrosis treated at Hospital Israelita Albert Einstein between 2010 and 2020. Results A total of 104 patients with myelofibrosis were examined. Patients who had not been submitted to tests in our service were excluded. The final sample comprised 69 patients. Of these 69, 56 were submitted to karyotyping and 22 to myeloid panel with next-generation sequencing. Karyotype was normal in 60% of the patients and altered in 40%. The prevalence of high-risk molecular mutations was higher in patients referred for bone marrow transplantation (100% versus 50%). The median follow-up of transplant patients was 2.4 years and the overall survival at 2 years was 80% (95%CI: 62-100%). Conclusion The molecular analysis enables estimating the patient's risk and thus instituting more aggressive treatment such as bone marrow transplant for patients at higher risk, being a relevant tool to guide therapy. Given the significance of molecular analysis for therapeutic decision-making in myelofibrosis, collection and disclosure of data on the prevalence of cytogenetic changes and findings of next-generation sequencing in affected patients is important.
ABSTRACT
A Ectasia Vascular do Antro Gástrico (EVAG) é uma condição rara associada à hemorragia digestiva e anemia significativa. Acomete principalmente idosos e mulheres. É considerada uma anormalidade adquirida, resultando em ectasia da mucosa e da microvasculatura gástrica e é identificada na endoscopia digestiva alta (EDA). O diagnóstico pode se tornar complexo, pois a sua aparência endoscópica assemelha-se à gastropatia portal hipertensiva (GPH) ou à gastrite antral¹ , ². Este estudo tem como objetivo relatar um caso de EVAG e notificar a importância do conhecimento desta patologia, bem como a inclusão no diagnóstico diferencial à doenças como GPH e gastrite antral, para conduzir ao tratamento apropriado, pois apresenta bom prognóstico. Trata-se de um estudo descritivo, no qual foi relatado caso de paciente masculino, 76 anos, que procurou atendimento médico por acentuada anemia e melena. O paciente apresentava quadro anêmico há 6 meses, associado à fadiga, palidez e histórico de múltiplas transfusões sanguíneas. Foi requisitado EDA, o qual apresentou colunas vermelhas longitudinais no antro gástrico, possibilitando a associação com a clínica e seu diagnóstico. O paciente foi conduzido para terapêutica com o Coagulador de Plasma de Argônio e apresentou boa evolução4 . Pacientes idosos que apresentam anemia crônica sem causa aparente e/ou hemorragia digestiva alta, associada com a sintomatologia citada, devem ser endoscopicamente investigados para EVAG³. O diagnóstico desta patologia é muitas vezes dificultado, já que existem outras causas mais comuns de hemorragia digestiva, que mascaram o diagnóstico. Desta forma, destaca-se a importância do conhecimento dessa enfermidade, pois o tratamento adequado apresenta-se eficaz.
Gastric Antral Vascular Ectasia (GAVE) is a rare condition associated with digestive hemorrhage and significant anemia. It mainly affects elderly and women. It is considered an acquired abnormality, resulting in mucosal ectasia and gastric microvasculature and is identified in upper digestive endoscopy (EDA). The diagnosis can become complex, since its endoscopic appearance resembles hypertensive portal gastropathy (GPH) or antral gastritis¹, ². This study aims to report a case of GAVE and to notify the importance of the knowledge of this pathology, as well as the inclusion in the differential diagnosis to diseases such as GPH and antral gastritis, to lead to appropriate treatment, since it presents a good prognosis. This is a descriptive study, in which a case of a 76-year-old male patient who sought medical care for marked anemia and mane was reported. The patient presented an anemic condition for 6 months, associated with fatigue, pallor and history of multiple blood transfusions. EDA was requested, which presented longitudinal red columns in the gastric antrum, making possible the association with the clinic and its diagnosis. The patient was submitted to therapy with the Argon Plasma Coagulator and showed good evolution4. Elderly patients presenting with unexplained chronic anemia and / or upper gastrointestinal bleeding, associated with the mentioned symptomatology, should be endoscopically investigated for GAVE³. The diagnosis of this pathology is often difficult, since there are other more common causes of digestive hemorrhage, which mask the diagnosis. In this way, the importance of the knowledge of this disease is highlighted, since the appropriate treatment is effective.
ABSTRACT
A estrongiloidíase humana é um tipo de helmintose causada por duas espécies de nematoides intestinais pertencentes ao gênero Strongyloides. O acometimento do estômago é raro, especialmente em imunocompetentes, e quando acontece os principais sintomas gastrointestinais incluem diarreia, desconforto abdominal, náusea e anorexia. O exame anatomopatológico a partir de biópsias fornece o diagnóstico definitivo. O objetivo deste trabalho é relatar um caso atípico de estrongiloidíase gástrica em paciente imunocompetente que apresentava quadro de dor abdominal difusa recorrente.
Human strongyloidiasis is a type of helminth caused by two species of intestinal nematodes belonging to the genus Strongyloides. Stomach upset is rare, especially in immunocompetent patients, and when major gastrointestinal symptoms do occur they include diarrhea, abdominal discomfort, nausea, and anorexia. Anatomopathological examination from biopsies provides the definitive diagnosis. The objective of this study was to report an atypical case of gastric strongyloidiasis in an immunocompetent patient with recurrent diffuse abdominal pain.