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.
BackgroundFamilial 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.MethodsThe 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.ResultsThe 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.ConclusionA 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.
O Transtorno do Espectro Autista (TEA) é caracterizado por déficits persistentes na comunicação social, padrões restritos e repetitivos de comportamento, interesses ou atividades e, muitas vezes, deficiências intelectuais. O TEA possui várias comorbidades prevalentes, como distúrbios do sono, distúrbio do déficit de atenção/hiperatividade e epilepsia. Existe um interesse crescente em canabinóides, especialmente canabidiol (CBD), como monoterapia ou tratamento complementar para os principais sintomas e comorbidades do TEA. No entanto, a ação neural do CBD, sua relevância e eficácia para o TEA, ainda permanece em discussão. O objetivo deste trabalho foi empreender uma revisão de literatura sobre estudos que tratem dos efeitos do uso de Cannabis sativa (cannabis). no indivíduo com TEA. Foram encontrados 45 estudos nas bases de dados PubMed, MEDLINE e LILACS , dos quais, apenas 5 conformaram-se com os critérios de aceitação, com os descritores: Cannabis AND Autism Spectrum Disorder. Observamos que são necessários estudos adicionais para examinar os prós e contras do CBD e outros canabinóides no TEA, antes que eles sejam estabelecidos como tratamento para sintomas e comorbidades do TEA. Nenhum dos trabalhos apresentam dados clínicos ou pré-clínicos convincentes que demonstrem a eficácia e segurança da cannabis medicinal, incluindo o CBD.
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