Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazili an centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, C620, C630, E768 and S891 present a similar prevalence, some mutations have a lower prevalence in Brazil, and others are found mainly in Brazil (G533C and M918V). These results reflect the singular proportion of European, Amerindian and African ancestries in the Brazilian mosaic genome83289298CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESPFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DO RIO GRANDE DO SUL - FAPERGSSem informaçãoSem informação2006/60402-1; 2010/51547-1; 2013/01476-9; 2014/06570-6; 2009/50575-4; 2010/51546-5; 2012/21942-116/2551-0000482-

Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazilian centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, C620, C630, E768 and S891 present a similar prevalence, some mutations have a lower prevalence in Brazil, and others are found mainly in Brazil (G533C and M918V). These results reflect the singular proportion of European, Amerindian and African ancestries in the Brazilian mosaic genome

Alquimia, Ocultismo, Maçonaria: o ouro e o simbolismo hermético dos cadinhos (Séculos XVIII e XIX)

Este artigo apresenta a arqueologia das enigmáticas marcas impressas na base de cadinhos dos séculos XVIII e XIX recuperados nas escavações da Casa da Moeda do Rio de Janeiro, na década de 1980, e a explanação do seu significado simbólico à luz da alquimia, do ocultismo e da Maçonaria. Espraiando-se extraordinariamente mundo afora através de uma bem-sucedida estratégia de comunicação visual, a Maçonaria utilizou símbolos herméticos para a difusão de seus princípios nos mais diferentes suportes. Aparentemente estamos diante de um sinal de reconhecimento maçônico, o sinal exterior de uma organização oculta, só partilhado por iniciados e incompreensível para os demais, que contribuiu para difundir veladamente a doutrina maçônica por diferentes pontos do globo

Pseudomelanosis duodeni associated with chronic renal failure

Pseudomelanosis duodeni (PD) is a rare dark speckled appearance of the duodenum associated with gastrointestinal bleeding, hypertension, chronic heart failure, chronic renal failure and consumption of different drugs. We report four cases of PD associated with chronic renal failure admitted to the gastroenterology outpatient unit due to epigastric pain, nausea, melena and progressive reduction of hemoglobin index. Gastroduodenal endoscopy revealed erosions in the esophagus and stomach, with no active bleeding at the moment. In addition, the duodenal mucosa presented marked signs of melanosis; later confirmed by histopathological study. Even though PD is usually regarded as a benign condition, its pathogenesis and clinical significance is yet to be defined

Silagem ácida de resíduos da filetagem de tilápias para girinos de rã-touro (Rana catesbeiana Shaw,1802): Digestibilidade e desempenho Acid silage of filetage from tilapia residues for frog-bull tadpoles (Rana catesbeiana Shaw,1802): (Digestibility and performance assays)

Os experimentos foram realizados para avaliar os coeficientes de digestibilidade aparente dos nutrientes e da energia bruta da silagem ácida de resíduos da filetagem de tilápia do Nilo (Oreochromis niloticus), para girinos de rã-touro (Rana catesbeiana) e o desempenho dos girinos recebendo níveis crescentes (0, 15, 30%) da silagem ácida em substituição à farinha de peixe na ração. Na digestibilidade foram utlizados 200 girinos, medindo em média 7 cm e peso médio de 3 g, acondicionados em aquários de 40 litros. A coleta de fezes foi feita em 7 dias e a determinação dos coeficientes de digestibilidade aparentes e energia digestível aparente foi feita por metodologia indireta, tendo sido utilizado 1,0% de Cr2O3 como indicador incorporado à ração. No desempenho foram utilizados 240 girinos, com peso médio de 2,5 g acondicionados em aquários de 40 litros. As variáveis analisadas foram: ganho de peso final (GPF); consumo de ração total (CRT); e conversão alimentar aparente (CAA). O delineamento utilizado foi o inteiramente casualizado, com 3 tratamentos e 16 repetições. Os valores de digestibilidade encontrados foram: coeficiente de digestibilidade aparente da matéria seca 95,48; coeficiente de digestibilidade aparente da proteína bruta 95,90; coeficiente de digestibilidade aparente do extrato etéreo 99,25; coeficiente de digestibilidade aparente da energia bruta 95,75 e o coeficiente da energia digestível aparente (kcal/kg) 2418,04. Observou-se uma diminuição linearmente (P<0,01) para o ganho de peso final e consumo de ração total. Concluiu-se que este alimento prejudicou o desempenho, apesar dos altos coeficientes de digestibilidade.<br>The experiments were conduct in order to evaluate the nutrients apparent digestibility coefficients and gross energy and performance assay by using the acid silage from tilapia filetage residues of Nile's tilapia (Oreochromis niloticus) for frog-bull tadpoles (Rana catesbeiana) using increasing levels (0, 15, 30%) of acid silage residues in substitution to the fish meal in the ration of frog-bull tadpoles. For the digestibility assay were utilized 200 tadpoles, measuring on an average 7 cm, packed in aquaria of 40 liters. The feces collection was made in 7 days and the coefficients apparent digestibility of nutrients and energy digestible determination were made by indirect methodology and using 1,0% of Cr2O3 as diet indicator. In the performance assay a total of 240 tadpoles were utilized , with middleweight of 2,5 g packed in aquaria of 40 liters. The variables analyzed were: weight gain (WG); total feed intake (TFI); and apparent feed conversion (AFC). The experimental was in the entirely randomized design, with 3 treatments and 16 repetitions. The digestibility values were: Apparent coefficient of Dry Matter 95.48; Apparent coefficient of crude protein 95.90; Apparent coefficient of ethereal extract 99.25; Apparent crude energy digestibility coefficient 95.75 and digestible energy (kcal DE / kg) 2418. The results shown linearly decreased (P<0,01) for the weight gain and feed intake. It was conclude that the acid silage from tilapia filetage residues shown low performance, therefore high nutrients digestibility of diets for bull tadpoles (Rana catesbeiana)