http://hdl.handle.net/11422/26357 2026-03-09T03:38:57Z http://hdl.handle.net/11422/26365 Title: Síndrome POEMS: revisão de literatura sobre esta doença rara e de apresentação diversa Author(s)/Inventor(s): Papinutto, Luisa de S. Thiago Advisor: Loureiro, Monique Morgado Abstract: POEMS syndrome is a rare condition, with an estimated incidence of 0.3 cases per 100,000 individuals, more common in males and older adults. Its pathogenesis is not well understood and is associated with a monoclonal plasma cell dyscrasia. The acronym, described by Bardwick in 1980, refers to most of its manifestations: polyneuropathy, organomegaly, endocrinopathy, monoclonal component, and skin changes. Diagnosis is challenging, requiring the presence of two mandatory criteria (polyneuropathy and monoclonal component) and at least one major and one minor criterion. The syndrome has a varied presentation with well-established diagnostic criteria and may be underdiagnosed when this hypothesis is not considered. Stratification is limited to phenotype, with variable frequency of clinical and laboratory manifestations. Therapy should be risk-adapted to minimize toxicity and aimed at eradicating the plasma cell disorder, similar to therapies used in multiple myeloma and amyloidosis. An appropriate therapeutic approach is essential to prevent irreversible neurological sequelae and improve survival. Publisher: Universidade Federal do Rio de Janeiro Type: Trabalho de conclusão de especialização 2024-01-01T00:00:00Z http://hdl.handle.net/11422/26364 Title: Anemia aplásica: uma revisão de literatura Author(s)/Inventor(s): Vicenzi, Karine Advisor: Loureiro, Monique Morgado Abstract: Bone marrow aplasia is a rare hematological disorder, with an incidence of 0.6 to 6.1 cases per million inhabitants. It is characterized by the inability of the bone marrow to produce blood cells, leading to pancytopenia. Insufficiency of hematopoiesis can occur due to several mechanisms, such as the destruction of hematopoietic cells by cytotoxic agents, mutations and immune-mediated reactions. Marrow aplasia is a difficult diagnosis to make, as its clinical and laboratory characteristics overlap with other pathologies such as myelodysplasia and acute myeloid leukemia. Regarding treatment, there have been advances in therapies, but it continues to be a pathology of management and treatment due to its peculiarities. This work reviews the current literature on the etiology, diagnosis and treatment of bone marrow aplasia, using recent articles that address advances in understanding and management of this disease. Publisher: Universidade Federal do Rio de Janeiro Type: Trabalho de conclusão de especialização 2024-01-01T00:00:00Z http://hdl.handle.net/11422/26363 Title: Hepatopatia associada a doença falciforme: uma revisão de literatura Author(s)/Inventor(s): Santos, Jéssica Mussel Advisor: Loureiro, Monique Morgado Abstract: Sickle Cell Disease has a high prevalence in the population and may present with various vaso-occlusive crises throughout the life of the affected individual. These crises influence the morbidity and mortality of the disease as well as the patient's quality of life. The liver is one of the organs that can be affected by the vaso-occlusions characteristic of the disease, secondary to the sickling of the abnormal red blood cells in the hepatic sinusoids, which ultimately leads to sinusoidal obstruction and inflammation. Sickle Cell Hepatopathy is a broad term, and the differential diagnosis among the various conditions affecting the liver in sickle cell patients can be challenging, given the similar initial presentations and the wide spectrum of laboratory manifestations. The purpose of this article is to review the existing literature on liver disease in sickle cell disease, both in its acute and chronic forms. In doing so, it addresses relevant aspects of the pathophysiology, clinical presentation, and management of the main differential diagnoses, as these are rare and potentially severe manifestations that require prompt recognition and management to prevent unfavorable outcomes. Publisher: Universidade Federal do Rio de Janeiro Type: Trabalho de conclusão de especialização 2024-01-01T00:00:00Z http://hdl.handle.net/11422/26362 Title: Doença da crioaglutinina: revisão de literatura Author(s)/Inventor(s): Soares, Ana Luíza Brum Reis Advisor: Loureiro, Monique Morgado Abstract: Cold agglutinin disease is a rare entity, but has been better described and defined in recent years. It is a disease with a clonal substrate leading to the formation of autoantibodies capable of agglutinating red blood cells at low temperatures. Despite new advances, especially in the treatment of CAD, there is still much information based on observational studies, requiring further investigation. In recent years, with the understanding of the clonal pattern of the disease, targeted therapies against B cells and also inhibition of the complement system have been studied with promising results. Further studies are needed to find the best treatment for CAD. Publisher: Universidade Federal do Rio de Janeiro Type: Trabalho de conclusão de especialização 2024-01-01T00:00:00Z