Knijn, Nikki;
Water, Carlijn van de;
Vliet, Shannon van;
Meijer, Jos;
Riemersma, Sietske;
Tebar, Maria;
Punt, Cornelis;
Mekenkamp, Leonie;
Simmer, Femke;
Nagtegaal, Iris.
Background: Mutations in the RAS/RAF pathway predict resistance to anti-epidermal growth factor receptor
antibodies in colorectal cancer (CRC), and may be targets for future therapies. This study investigates concordance
of BRAF, HRAS, KRAS, NRAS and PIK3CA mutation status in primary CRC with matched liv...
Neoplasias Colorrectales/genética,
Neoplasias Hepáticas/genética,
Neoplasias Pulmonares/genética,
Proteínas ras/genética,
Proteínas Proto-Oncogénicas B-raf/genética,
Neoplasias Colorrectales/patología,
Neoplasias Hepáticas/secundario,
Neoplasias Pulmonares/secundario,
Secuencia de Bases,
Mutación/genética,
Secuenciación de Nucleótidos de Alto Rendimiento
Gao, Yong;
Wei, Lijuan;
Wang, Chenbang;
Huang, Yuanjie;
Li, Weidong;
Li, Tianyu;
Mo, Chaohua;
Qin, Huali;
Zhong, Xiaoge;
Wang, Yun;
Tan, Aihua;
Mo, Zengnan;
Jiang, Yonghua;
Hu, Yanling.
BACKGROUND: Chronic prostatitis has been supposed to be associated with preneoplastic lesions and cancer development. The objective of this study was to examine how chronic inflammation results in a prostatic microenvironment and gene mutation in C57BL/6 mice. METHODS: Immune and bacterial prostatitis mo...
Infecciones por Escherichia coli/patología,
Mutación/genética,
Lesiones Precancerosas/genética,
Prostatitis/genética,
Lesiones Precancerosas/microbiología,
Lesiones Precancerosas/patología,
Prostatitis/microbiología,
Prostatitis/patología,
Enfermedad Crónica,
Modelos Animales de Enfermedad,
Ratones Endogámicos C57BL,
Inmunohistoquímica
La enfermedad de Lafora es infrecuente; sin embargo, es una de las causas más comunes de epilepsia mioclónica progresiva. Presentamos el caso de una mujer de 19 años sin comorbilidades y pautas madurativas normales, que inició a los 8 años con convulsiones y que a partir de los 15 años agregó dete...
ABSTRACT Objectives: To characterize the main identified mutations on cystic fibrosis transmembrane conductance regulator (CFTR) in a group of children and adolescents at a cystic fibrosis center and its association with the clinical and laboratorial characteristics. Method: Descriptive cross-sectiona...
Abstract: The growth factor receptor c-kit (CD117) is expressed in immature T-cells and in some advanced forms of mycosis fungoides. c-kit gene mutation results in unrestricted neoplastic proliferation. We aimed to detect by PCR the most frequent exon mutations in seventeen plaque-stage MF patients, in t...
SUMMARY Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two sibl...
Hiperinsulinismo Congénito/genética,
Hiperinsulinismo Congénito/terapia,
Diazóxido/uso terapéutico,
Genotipo,
Mutación/genética,
Pancreatectomía/métodos,
Fenotipo,
Hermanos,
Somatostatina/análisis,
Receptores de Sulfonilureas/genética,
Resultado del Tratamiento
ABSTRACT Objective: The clinical, functional, radiological and genotypic descriptions of patients with an alpha-1 antitrypsin (A1AT) gene mutation in a referral center for COPD in Brazil. Methods: A cross-sectional study of patients with an A1AT gene mutation compatible with deficiency. We evaluated th...
Abstract Objectives: The aims of the study were to determine the frequency of hepatobiliary disease in patients with cystic fibrosis and to describe the sociodemographic, clinical, and laboratory profile of these patients. Methods: This was a retrospective, descriptive, and analytical study of 55 patie...
ABSTRACT The main mechanism of quinolone resistance in Klebsiella (K) pneumoniae is caused by mutation of porin-related proteins and efflux pumps. This study aimed to investigate the prevalence of ciprofloxacin-resistant K pneumoniae in burns patients and to understand the role of the AcrAB multidrug eff...
Cerqueira, Taíse Lima de Oliveira;
Ramos, Yanne Rocha;
Strappa, Giorgia Bruna;
Jesus, Mariana Souza de;
Santos, Jailciele Gonzaga;
Sousa, Camila;
Carvalho, Gildásio;
Fernandes, Vladimir;
Boa-Sorte, Ney;
Amorim, Tatiana;
Silva, Thiago Magalhães;
Ladeia, Ana Marice Teixeira;
Acosta, Angelina Xavier;
Ramos, Helton Estrela.
ABSTRACT Objective: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Subjects and methods: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with hormone levels (TT4 and TSH), thyroid ultra...
Brasil,
Estudios de Cohortes,
Hipotiroidismo Congénito/diagnóstico por imagen,
Hipotiroidismo Congénito/etiología,
Hipotiroidismo Congénito/genética,
Análisis Mutacional de ADN,
Pruebas Genéticas,
Proteína Homeótica Nkx-2.5/genética,
Mutación/genética,
Factor de Transcripción PAX8/genética,
Receptores de Tirotropina/genética,
Disgenesias Tiroideas/genética,
Ultrasonografía
