Rare Diseases
Mostrando 1-12 de 293 artigos, teses e dissertações.
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1. Orphan rare diseases - The unified airways and its importance for the otorhinolaryngologist
Brazilian Journal of Otorhinolaryngology. Publicado em: 2022
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2. Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned
Sao Paulo Medical Journal. Publicado em: 2022
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3. Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with is
International Journal of Cardiovascular Sciences. Publicado em: 2022
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4. Gene Silencing Therapeutics in Cardiology: A Review Article
Abstract Therapeutics that inhibit enzymes, receptors, ion channels, and cotransporters have long been the mainstay of cardiovascular medicine. Now, oligonucleotide therapeutics offer a modern variation on this paradigm of protein inhibition. Rather than target a protein, however, small interfering ribonucleic acids and antisense oligonucleotides target the
International Journal of Cardiovascular Sciences. Publicado em: 2022
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5. Acute invasive fungal rhinosinusitis in pediatric patients with oncohematological diseases
Abstract Introduction Invasive fungal diseases represent important causes of morbidity and mortality among pediatric oncohematological patients. Acute invasive fungal rhinosinusitis is a rare and aggressive disease that occurs mainly in immunocompromised patients. The mortality rate is high and therefore, accurate and early diagnosis is essential. Objectiv
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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6. Peritoneal lymphomatosis. A case report
ABSTRACT Introduction: Involvement of the peritoneum occurs very rarely and is exceptional as an exclusive extranodal presentation of lymphomas. In most cases lymphomas associated with this rare entity are high-grade ones. PL secondary to high-grade nodal lymphoma is more frequent than primary peritoneal lymphoma, and there are only a few cases of the latte
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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7. New treatments for rare bone diseases: hypophosphatemic rickets/osteomalacia
Abstract Phosphorus is one of the most abundant minerals in the human body; it is required to maintain bone integrity and mineralization, in addition to other biological processes. Phosphorus is regulated by parathyroid hormone, 1,25-dihydroxyvitamin D3 [1,25(OH)2D3], and fibroblast growth factor 23 (FGF-23) in a complex set of processes that occur in the gu
Archives of Endocrinology and Metabolism. Publicado em: 2022
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8. Cutaneous tuberculosis: epidemiological, clinical, diagnostic and therapeutic update
Abstract Tuberculosis is certainly one of the diseases considered to be ancient on planet Earth. The etiological agent of tuberculosis is Mycobacterium tuberculosis. This terrible bacterial infection still results in severe socioeconomic consequences to date, and its complete eradication represents a great challenge. It constitutes one of the most important
Anais Brasileiros de Dermatologia. Publicado em: 2022
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9. Recommendations for the diagnosis and management of Fabry disease in pediatric patients: a document from the Rare Diseases Committee of the Brazilian Society of Nephrology (Comdora-SBN)
Resumo A doença de Fabry (DF) é uma doença genética, com herança ligada ao cromossomo X, devido a variantes no gene GLA que codifica a enzima α-galactosidase A (α-GAL). O propósito do presente estudo foi criar um consenso objetivando padronizar as recomendações em relação ao acometimento renal da DF com orientações sobre o diagnóstico, rastrea
Brazilian Journal of Nephrology. Publicado em: 2022
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10. Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021
Resumo A doença de Fabry (DF) é uma doença genética, com herança ligada ao cromossomo X, que ocorre devido a variantes no gene GLA que codifica a enzima α-galactosidase A (α-GAL). O propósito do presente estudo foi criar um consenso objetivando padronizar as recomendações em relação ao acometimento renal da DF com orientações sobre o diagnósti
Brazilian Journal of Nephrology. Publicado em: 2022
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11. Epidermolysis bullosa acquisita
Abstract Epidermolysis bullosa acquisita is a rare autoimmune disease, characterized by the synthesis of anti-collagen VII autoantibodies, the main component of hemidesmosome anchoring fibrils. The antigen-antibody binding elicits a complex inflammatory response, which culminates in the loss of dermo-epidermal adhesion of the skin and/or mucous membranes. Sk
Anais Brasileiros de Dermatologia. Publicado em: 2022
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12. Systemic amyloidosis manifestation in a patient with psoriatic arthritis
Abstract Systemic amyloidosis secondary to psoriatic arthritis is rare, and published data are based mainly on case reports and are associated with increased mortality. This is the report of a patient with long-term psoriatic arthritis and chronic sialadenitis, who showed an inadequate response to therapy. The diagnosis of secondary amyloidosis was attained
An. Bras. Dermatol.. Publicado em: 2021-06