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1.
PLoS Negl Trop Dis ; 15(10): e0009790, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34648498

RESUMO

Dengue fever and chikungunya are viral diseases that have spread rapidly throughout the world in recent decades. The occurrence of complications is well known, including prerenal acute kidney injury (AKI), which is usually thought to be caused by dehydration and fluid loss. Thrombotic microangiopathy (TMA) is an uncommon aggravation of dengue fever and chikungunya, with only a few cases described in the medical literature. The aim of this study is to present 3 cases of TMA associated with arboviral infection. Three patients with clinical history, laboratory test, and kidney biopsy results compatible with TMA were selected for the study, 2 of whom had a serological diagnosis of dengue fever and 1 of chikungunya. The 3 patients were followed up at the Federal University of Maranhão Hospital's Nephrology Service in 2018. A targeted gene panel sequencing (TGPS) plus multiple to atypical hemolytic uremic syndrome (aHUS) multiplex ligation-dependent probe amplification (MLPA) was performed in 2 of the patients and revealed in the patient 1 a heterozygous pathogenic variant in the gene THBD, as well as heterozygous deletions in CFH, CFHR1, and CFHR3. In the patient 2, there were heterozygous pathogenic variant in the genes CFI and CFB, in addition to heterozygous deletions in the genes CFHR1 and CFHR3. Both received treatment with eculizumab and undergone recovery of renal function. The third patient had TMA not classified as either aHUS or thrombotic thrombocytopenic purpura (TTP); he abandoned the treatment and returned to the service after 2 years for a dialysis emergency. Patients with arboviral infectious disease and changes that suggest TMA should have appropriate support to establish early diagnosis and useful treatment.


Assuntos
Infecções por Arbovirus/virologia , Arbovírus/isolamento & purificação , Microangiopatias Trombóticas/virologia , Adolescente , Adulto , Infecções por Arbovirus/genética , Arbovírus/classificação , Arbovírus/genética , Arbovírus/fisiologia , Proteínas Sanguíneas/genética , Proteínas Inativadoras do Complemento C3b/genética , Heterozigoto , Humanos , Masculino , Mutação , Microangiopatias Trombóticas/genética , Adulto Jovem
2.
BMC Res Notes ; 9: 155, 2016 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-26966075

RESUMO

BACKGROUND: Familial cancer includes some types of cancer aggregation without a well-defined inheritance pattern. Cancer genetics is an essential component of clinical practice in oncology. In Brazil, breast cancer is the leading cause of death in women. In Maranhão, studies on genetic predisposition are necessary to investigate the incidence and mortality rates. The aim of this study was to investigate familial cancer among relatives of women who died of breast cancer in São Luís, Brazil, constructing a pedigree to identify families with a hereditary predisposition, an important step in the early diagnosis of malignant tumors. METHODS: The city of São Luís is located on the Island of Maranhão, northeastern Brazil, with a population of 997,098 inhabitants mainly comprising blacks and mulattoes, including descendants of runaway slaves from the Amazon region itself. Data for pedigree construction were obtained from the records of 54 patients seen at the Aldenora Bello Institute of Oncology, São Luís, between 2000 and 2007, as well as by interview with relatives of the patients. RESULTS: The mean patient age at diagnosis was 39.5 years. Most women were mulattoes (36/54, 66.6%). A history of cancer was observed in 18 families, with 16 families possessing cases of cancer among first-degree relatives and five among second-degree relatives. CONCLUSION: A concentration of cancer cases was found in families of patients diagnosed until the age of 40, a finding demonstrating the importance of a family history prior to genetic counseling.


Assuntos
Neoplasias da Mama/mortalidade , Anamnese , Adulto , Brasil/epidemiologia , Demografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Linhagem , Análise de Sobrevida , Adulto Jovem
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