ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogeni...
Giorgenon, Tatiana Marina Vieira;
Carrijo, Fabiane Tavares;
Arruda, Maurício Alamos;
Cerqueira, Taíse Lima Oliveira;
Barreto, Haiara Ramos;
Cabral, Juliana Brandão;
Silva, Thiago Magalhães da;
Magalhães, Patrícia Künzle Ribeiro;
Maciel, Léa Maria Zanini;
Ramos, Helton Estrela.
ABSTRACT Objectives: This observational study analyzed telomerase reverse transcriptase (pTERT) mutations in 45 fine-needle aspiration (FNA) specimens obtained from thyroid nodules followed by postoperatively confirmation of papillary thyroid cancer (PTC) diagnosis, examining their relationship with cli...
Factores de Edad,
Biopsia con Aguja Fina,
Análisis Mutacional de ADN,
Metástasis Linfática/diagnóstico,
Mutación/genética,
Estadificación de Neoplasias,
Valor Predictivo de las Pruebas,
Periodo Preoperatorio,
Pronóstico,
Regiones Promotoras Genéticas/genética,
Proteínas Proto-Oncogénicas B-raf/genética,
Telomerasa/genética,
Cáncer Papilar Tiroideo/diagnóstico,
Cáncer Papilar Tiroideo/genética,
Cáncer Papilar Tiroideo/patología,
Neoplasias de la Tiroides/diagnóstico,
Neoplasias de la Tiroides/genética,
Neoplasias de la Tiroides/patología,
Nódulo Tiroideo/diagnóstico,
Nódulo Tiroideo/genética,
Nódulo Tiroideo/patología
Pessôa-Pereira, Danielle;
Medeiros, Mateus Fernandes da Silva;
Lima, Virna Mendonça Sampaio;
Silva Jr, Joaquim Custódio da;
Cerqueira, Taíse Lima de Oliveira;
Silva, Igor Campos da;
Fonseca Jr, Luciano Espinheira;
Sampaio, Luiz José Lobão;
Lima, Cláudio Rogério Alves de;
Ramos, Helton Estrela.
ABSTRACT Objectives: We aimed to investigate the prevalence of the BRAF (V600E) mutation in consecutive cases of papillary thyroid carcinoma (PTC) in patients diagnosed and treated at the Hospital Sao Rafael (Salvador, BA, Brazil) and evaluate its association with clinical and pathological characteristi...
Factores de Edad,
Brasil/epidemiología,
Estudios Transversales,
Análisis Mutacional de ADN,
Enfermedad de Hashimoto/complicaciones,
Enfermedad de Hashimoto/genética,
Mutación/genética,
Prevalencia,
Pronóstico,
Proteínas Proto-Oncogénicas B-raf/genética,
Estudios Retrospectivos,
Cáncer Papilar Tiroideo/complicaciones,
Cáncer Papilar Tiroideo/epidemiología,
Cáncer Papilar Tiroideo/genética,
Neoplasias de la Tiroides/epidemiología,
Neoplasias de la Tiroides/genética
Chronic lymphocytic leukemia (CLL) is the most common leukemia in the Western world. The disease hasa highly variable clinical course, ranging from very indolent cases to patients with aggressive and rapidlyprogressing outcome. Genetic studies are useful tools in analyzing this pathology, and have been i...
ABSTRACT Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most com...
Edad de Inicio,
Brasil,
Estudios de Casos y Controles,
Estudios Transversales,
Estudios de Asociación Genética,
Glucosilceramidasa/genética,
Mutación/genética,
Enfermedad de Parkinson/genética,
Reacción en Cadena de la Polimerasa,
Polimorfismo de Longitud del Fragmento de Restricción,
Factores de Riesgo
SUMMARY Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Extracellular accumulation of TNSALP substrates leads to dento-o...
O hepatoblastoma, câncer de fígado mais comum na infância, é um tumor embrionário que se supõe surgir da interrupção da diferenciação hepática durante a embriogênese. O genoma deste tipo tumoral carrega poucas alterações somáticas, principalmente aneuploidias cromossômicas e mutações em...
Abstract INTRODUCTION Mutations in the propeller domain of the Plasmodium falciparum kelch13 (k13) gene are associated with artemisinin resistance. METHODS: We developed a PCR protocol to sequence the pfk13 gene and determined its sequence in a batch of 50 samples collected from 2003 to 2016 in Brazi...
Abstract INTRODUCTION Mozambique is one of three countries with high prevalence of tuberculosis (TB), TB/human immunodeficiency virus coinfection, and multidrug-resistant TB. We aimed to describe Mycobacterium tuberculosis spoligotypes circulating among drug resistant (DR) strains from Beira, Mozambiqu...
BACKGROUND In recent years, South America has suffered the burden of continuous high impact outbreaks of dengue, chikungunya and Zika. Aedes aegypti is the main mosquito vector of these arboviruses and its control is the only solution to reduce transmission. OBJECTIVES In order to improve vector contr...
Aedes/efectos de los fármacos,
Aedes/genética,
Biodiversidad,
Brasil,
Guyana Francesa,
Genotipo,
Resistencia a los Insecticidas/efectos de los fármacos,
Resistencia a los Insecticidas/genética,
Mosquitos Vectores/efectos de los fármacos,
Mosquitos Vectores/genética,
Mutación/genética
