Germline Mutations in Familial Papillary Thyroid Cancer.

Thyroid cancer, predominantly of papillary histology (PTC), is a common cancer mostly diagnosed sporadically. Hereditary PTC is encountered in ~ 5% of cases and may present at an earlier age, with greater risks of metastasis and recurrence, compared with sporadic cases. The molecular basis of hereditary PTC is unknown in most cases. In this study, the genetic basis of hereditary PTC in three Brazilian families was investigated. Whole exome sequencing (WES) was carried out for probands in each family, and validated, pathogenic/likely pathogenic sequence variants (P/LPSVs) were genotyped in additional family members to establish their putative pathogenic role. Overall, seven P/LPSVs in seven novel genes were detected: p.D283N*ANXA3, p.Y157S*NTN4, p.G172W*SERPINA1, p.G188S*FKBP10, p.R937C*PLEKHG5, p.L32Q*P2RX5, and p.Q76*SAPCD1. These results indicate that these novel genes are seemingly associated with hereditary PTC, but extension and validation in other PTC families are required.

Prevalence of the DPYD variant (Y186C) in Brazilian individuals of African ancestry.

PURPOSE: The presence of deleterious variants of dihydropyrimidine-dehydrogenase gene (DPYD) is associated with 5-Fluorouracil toxicity. Most of the data are based on findings in Caucasian populations. The variant Y186C (rs115232898) is found almost exclusively in African populations and is related to low DPD function. Its prevalence may vary among African subpopulations and in African Americans. There is no information in other populations. Brazil has the biggest African population outside Africa. We studied for the first time the frequency of this mutation in African Brazilians. METHODS: We amplified exon 6 of DPYD extracted from genomic DNA of 79 healthy volunteers of genetically defined African ancestry from Southeast Brazil and 36 self-reported African descendants from Northeast Brazil in order to determine the prevalence of the variant Y186C in Brazilians of African ancestry. RESULTS: The variant Y186C was found in heterozygosity in two samples from Southeast (2.53%) and one from Northeast (2.77%) Brazil. Overall, the prevalence of this mutation in the 115 African Brazilians was 2.6%. CONCLUSIONS: The variant Y186C is prevalent among Brazilians of African ancestry and should be taken in account in targeted genotyping for fluoropyrimidine risk variants.

Induced spawning and early ontogeny in hatchery-reared catfish Zungaro jahu (Siluriformes: Pimelodidae)

Hatchery-kept catfish jahus Zungaro jahu (Ihering, 1898) were induced to spawn with carp pituitary extract. The telolecithal eggs were round (1.6 ± 0.1 mm in diameter), demersal, free, and covered with a 0.4 mm-thick jelly coat. The gonadosomatic index of 2.8 was comparable to that of other Pimelodidae. The number of eggs x g of ova-1 was 804 ± 144. Hatching occurred 14.5 h after fertilization, at a temperature of 27.3 ± 0.4º C. The newly-hatched embryos measured 3.9-4.3 mm of total length (TL). At 18 h post-hatching (HPH; 5.3 ± 0.1 mm TL), the retina was pigmented, the mouth opened and dorsoflexion of the notochord had initiated. At 36 HPH (6.4 ± 0.2 mm TL), fusiform chromatophores were vertically arranged in the primordial fin fold and the notochord was dorsoflexed. The yolk sac was almost exhausted by 48 HPH (7.3 ± 0.2 mm TL). At 128 HPH (8.6 ± 0.6 mm TL) the pectoral, dorsal, adipose, caudal, anal, and pelvic fins were readily observable whereas the primordial fin fold was no longer visible. At 224 HPH (16.6 ± 2.5 mm TL), the metamorphosis was completed and the larvae had acquired the juvenile appearance.

Jaús Zungaro jahu (Ihering, 1898), mantidos em estação de piscicultura, foram induzidos à reprodução com extrato bruto de hipófise de carpa. Seus ovos são telolécitos, arredondados (1,6 ± 0,1 mm de diâmetro), demersais, livres e cobertos por uma capa gelatinosa com 0,4 mm de espessura. O índice gonadossomático (peso da ova : peso total do peixe) de 2,8 foi semelhante ao de outros Pimelodidae. O número de ovos x g de ova-1 foi 804 ± 144. A eclosão dos embriões ocorreu 14,5 h pós-fertilização à temperatura de 27,3 ± 0,4º C. Os embriões recém-eclodidos apresentaram 3,9-4,3 mm de comprimento total (CT). Dezoito horas pós-eclosão (HPE) e 5,3 ± 0,1 mm CT, a retina estava pigmentada, a boca aberta e a flexão da notocorda tinha se iniciado. Às 36 HPE (6,4 ± 0,2 mm CT), observaram-se cromatóforos fusiformes alinhados verticalmente na nadadeira primordial; a notocorda já se encontrava flexionada. O saco vitelínico encontrava-se quase que inteiramente absorvido às 48 HPE (7,3 ± 0,2 mm CT). Com 128 HPE (8,6 ± 0,6 mm TL), as nadadeiras peitoral, dorsal, adiposa, caudal, anal e pélvica estavam formadas e a nadadeira primordial já havia sido reabsorvida. Com 224 HPE (16,6 ± 2,5 mm CT), a metamorfose se completou e as larvas se transformaram em juvenis.

Feeding and social behavior of the piabanha, Brycon devillei (Castelnau, 1855) (Characidae: Bryconinae) in the wild, with a note on following behavior

Knowledge concerning the behavior of wild freshwater fishes in Brazil is restricted to a few studies, despite such studies being able to answer fundamental questions about conservation. Species of Brycon are amongst the most threatened in the Neotropics, particularly in southeast Brazil, due to anthropogenic activities in this region. This study investigated the feeding and social behaviors of the endangered fish, Brycon devillei in the Preto River, Jequitinhonha basin, Minas Gerais State, Brazil. Behavioral data were collected by snorkeling with four spatially separated groups (habituated), and direct observations of shoals were made using an underwater video camera (a total of 448 hours of observations). This species showed diverse tactics to obtain food. However, the species proved to be predominately a specialist surface-picker, which adopted alternative tactics to find food at certain times of the year, most notably when food items on the water surface became low. Feeding frequency was shown to be negatively correlated to agonistic behavior between conspecifics. Feeding associations were also recorded between the anostomid Leporinus garmani, acting as a nuclear species, and B. devillei, as follower species. The data presented here showed the importance of conserving the riparian environment to protect B. devillei populations. Furthermore, the present study included rare observations of nuclear-follower feeding association among freshwater fishes, especially between medium-sized characiforms, being the first observations of such kind in a Cerrado stream.

O conhecimento do comportamento de vida livre em peixes de água doce brasileiros é restrito a poucos estudos e pode responder a questões fundamentais de conservação. Espécies do gênero Brycon estão entre as mais ameaçadas na região neotropical, especialmente no sudeste brasileiro, em vista de diversos impactos antrópicos. O presente estudo investigou os comportamentos alimentar e social de Brycon devillei no rio Preto, bacia do Jequitinhonha, Brasil. Para tanto, utilizou-se seções de mergulhos livres para observação direta de quatro grupos habituados de B. devillei, com o auxílio de câmeras filmadoras subaquáticas. Tal espécie apresentou variadas táticas para obtenção de alimento. Entretanto, a espécie demonstrou ser um forrageador de superfície especializado que, em determinados períodos do ano, quando provavelmente a lâmina d'água torna-se uma fonte escassa de recursos, adota táticas alternativas em busca de alimentos. A frequência de forrageamento demonstrou ser negativamente correlacionada com os comportamentos agonísticos. Foram observadas associações alimentares interespecíficas envolvendo o timburé, Leporinus garmani, como espécie nuclear, e a piabanha, Brycon devillei, como sua seguidora. Os dados apresentados no presente estudo demonstram a importância de se conservar o ambiente ripário em prol da proteção das populações de B. devillei. Além disso, o presente estudo é um dos raros registros de associação alimentar do tipo nuclear-seguidor entre peixes de água doce, especialmente entre espécies de médio porte, e o primeiro deste tipo para riachos de Cerrado.

GAPs in the study of zoo and wild animal welfare.

To investigate the science of animal welfare for zoo and wild animals in the period from 1966 to 2007, we conducted a bibliometric analysis of abstracts downloaded from The Web of Science((c)) database using the keyword combination "Animal welfare, Zoo* and wild" in the topic field. In total we downloaded 1,125 abstracts, which were classified into the following categories: year of publication; environment of the study (e.g., zoo) or theoretical; area of knowledge (e.g., conservation in situ); number of experimental animals used; species; addresses of authors; taxonomic classification; publication language; journal name; number of citations received. Since 1990, there has been a rapid increase in the number of articles published in this area of animal welfare. One worrying result was that published articles were predominately of a theoretical nature (58.65%, N=563). Most of the articles were published by authors either in Europe (47.43%, N=480) or North America (37.65%, N=381) and written in English (87.71%, N=971). The majority of experimental studies were conducted with mammals (75.92%, N=391), and had small sample sizes (N=7 for zoo-based studies). In terms of impact factor (IF), the journals in this study had a median factor equivalent to that for the area of biological sciences (median IF=1.013). Little knowledge cross-over from farm animal welfare was found (only four articles) in this study. In conclusion, zoo and wild animal welfare as a science may benefit from a greater interaction with farm animal welfare.