Hereditary
Mostrando 1-12 de 1459 artigos, teses e dissertações.
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1. Como investigar um resultado de ferritina elevado?
Os casos de hiperferritinemia devem ser inicialmente investigados repetindo-se a dosagem de ferritina, além da dosagem de saturação de transferrina e hemograma com plaquetas. Deve-se investigar se o paciente tem história familiar de sobrecarga de ferro ou cirrose, história de reposição de ferro em excesso ou sobrecarga secundária a transfusões, u
Núcleo de Telessaúde Rio Grande do Sul. Publicado em: 12/06/2023
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2. Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient’s profile submitted to phlebotomy in two reference centers in southern Brazil
Abstract Hereditary Hemochromatosis is a disorder characterized by iron deposition in several organs and hyperferritinemia. The most studied variants are linked to the HFE gene. In Brazil, surveys that characterize this population are scarce, with no sampling in the state of Rio Grande do Sul. Our objective is to carry out a data collection focusing on the p
Genetics and Molecular Biology. Publicado em: 2023
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3. Brain abscess and hereditary hemorrhagic telangiectasia
Arquivos de Neuro-Psiquiatria. Publicado em: 2022
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4. Hereditary thrombotic thrombocytopenic purpura: a case report
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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5. Icatibant use in Brazilian patients with hereditary angioedema (HAE) type 1 or 2 and HAE with normal C1-INH levels: findings from the Icatibant Outcome Survey Registry Study
Abstract Background: Hereditary angioedema can be caused by C1-Inhibitor (C1-INH) deficiency and/or dysfunction (HAE-1/2) or can occur in patients with normal C1-INH (HAE nC1-INH). Methods: The Icatibant Outcome Survey (IOS; NCT01034969) registry monitors the safety and effectiveness of icatibant for treating acute angioedema. Objective: Present findings
Anais Brasileiros de Dermatologia. Publicado em: 2022
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6. Ophthalmological manifestations of hereditary transthyretin amyloidosis
RESUMO A amiloidose familiar por transtirretina é a forma mais comum de amiloidose sistêmica hereditária mundialmente. A condição é secundária a mais de 100 mutações ponto diferentes no gene da transtirretina (18q12.1). Mutações levam a depósitos anormais de amilóide principalmente no coração e nos nervos periféricos. O envolvimento leptomen�
Arquivos Brasileiros de Oftalmologia. Publicado em: 2022
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7. 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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8. Common and uncommon neuroimaging manifestations of ataxia: an illustrated guide for the trainee radiologist. Part 2 - neoplastic, congenital, degenerative, and hereditary diseases
Resumo Ataxia é definida como uma síndrome de falta de coordenação dos músculos de movimentação voluntária. Vários fatores podem causar ataxias, as quais podem ser classificadas de acordo com a idade, tipo de evolução (crônica ou aguda), cujas lesões envolvem o cerebelo e as conexões cerebelares. Com o uso correto e apropriado da neuroimagem, p
Radiologia Brasileira. Publicado em: 2022
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9. Sebaceous nevus of Jadassohn: review and clinical-surgical approach
Abstract Background: Nevus sebaceous of Jadassohn is defined as a rare congenital malformation characterized as a non-hereditary hamartoma of the adnexal structures of the skin. Its etiology is not yet well understood, but it is believed to be related to post-zygotic mutations in the HRAS, NRAS and KRAS genes. Objective: To describe the clinical manifestat
Anais Brasileiros de Dermatologia. Publicado em: 2022
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10. Recording cutaneous silent period parameters in hereditary and acquired neuropathies
Resumo Antecedentes Período de silêncio cutâneo (PSC) é uma interrupção da atividade muscular após a estimulação dolorosa de um nervo sensitivo. Objetivo O presente estudo tem como objetivo avaliar alterações do PSC em indivíduos com polineuropatia. Métodos O presente estudo avaliou PSC em indivíduos com diabetes mellitus (DM) e com doença
Arquivos de Neuro-Psiquiatria. Publicado em: 2022
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11. Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil
ABSTRACT Introduction: Thromboembolic events occur due to an imbalance in the hemostasis and some factors associated with this condition can be inherited. In order to evaluate the frequency of genotypes considered to be common hereditary risk factors for thrombophilia associated with venous thrombosis (g.1691G>A and g.20210G>A) and hyperhomocysteinemia (g.6
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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12. Assessment of serum endocan levels in patients with beta-thalassemia minor
SUMMARY OBJECTIVE: Beta-thalassemia minor is a blood disease caused by a hereditary decrease in beta-globin synthesis, frequently leading to hypochromic microcytic anemia. Formerly called endothelial cell-specific molecule 1, endocan is a proteoglycan released by vascular endothelial cells in many organs. Our aim was to investigate the relationship between
Revista da Associação Médica Brasileira. Publicado em: 2022