Serotonin 2C receptors (5HT2C) are involved in serotonin-driven dynamic equilibrium adjustments responsible for homeostatic stability in brain structures that modulate behavior and emotions. Single nucleotide polymorphisms (SNPs) from the serotonin 2C receptor gene (HTR2C) have been associated with several neurological and mental disorders, including abnormalities in cognitive and emotional processes. The aim of this study was to evaluate the association between the rs6318 SNP of the HTR2C gene and behavioral characteristics exhibited by children and adolescents based on the Child Behavior Checklist (CBCL/6-18) inventory. Eighty-five psychiatric outpatients between 8 and 18 years of age underwent genotyping of the rs6318 SNP. The CBCL/6-18 scale was administered to their caregivers. The chi-squared test was used to assess differences in the frequency of C and G alleles of the rs6318 SNP relative to the grouped CBCL/6-18 scores; significance level was 5%. The presence of the G allele of rs6318 was found to be associated with characteristics of aggressive behavior and social problems, and aggressive behavior was found to be associated with heterozygosis in females. These findings contribute to the identification of mental and behavioral phenotypes associated with gene expression.

RESUMO O gênero Aloe, originário principalmente da África, tem atualmente uma ampla distribuição no mundo. No entanto, são poucas as regiões que têm realizado estudos quanto ao sistema reprodutivo. O objetivo do presente trabalho foi analisar as características e o comportamento reprodutivo de Aloe saponaria em Florianópolis, Santa Catarina. Foram conduzidos estudos sobre sua morfologia e biologia floral, visitantes florais e sistema reprodutivo. Esta espécie apresentou uma inflorescência por planta, com um comprimento de 105 ± 0,1 cm e 267 ± 92,7 flores. A razão pólen/óvulo sugere que a espécie é xenogâmica. O volume e concentração de sólidos solúveis totais do néctar potencial foi 16,6 ± 6,3 μL e 22 ± 2,4 °Brix respectivamente. O néctar instantâneo não apresentou diferenças significativas nos períodos avaliados (9:00h e 15:00h) e o estigma permaneceu receptivo até o segundo dia após a antese. Foram coletados 110 insetos visitantes florais, dos quais 61,8% foram indivíduos de Trigona spinipes. Entretanto, nos testes de polinização não foi observada frutificação efetiva, indicando que a propagação vegetativa é o principal tipo de reprodução usado nessa população. Isto pode estar relacionado a um mecanismo de autoincompatibilidade esporofítica, a anormalidades cromossômicas durante a formação do pólen, as condições climáticas, e a escassa variabilidade genética no local de estudo.

ABSTRACT The Aloe genus, originating mainly from Africa, currently has a wide distribution in the world. However, in few regions studies about the reproductive system have been carried on. The aim e of this study was to analyze the characteristics and reproductive performance of the Aloesaponaria in Florianópolis, Santa Catarina. The morphology, floral biology, flower visitors and the reproductive system were determined. The plants presented an inflorescence per plant, with 105 ± 0,1 cm in length and 267 ± 92.7 flowers. The pollen/ovule ratio suggested that the species is xenogamic. The volume and concentration of total soluble solids in the potential nectar were 16.6 ± 6.3 μL and 22 ± 2.4°Brix, respectively. The instant nectar showed no significant differences between the evaluated periods (9:00h and 15:00h) and the stigma remained receptive until the second day the after anthesis. 110 insects were collected, from which 61.8% were from theTrigona spinipesspecies. However, in the pollination tests the fruit set was not observation, indicating that vegetative propagation is the main type of reproduction used by this population. This may be related to a mechanism of sporophytic self-incompatibility, to chromosomal abnormalities during the formation of pollen, to weather conditions, and to the low genetic variability at the study site.

O objetivo do trabalho foi descrever os parâmetros hematológicos e as alterações histopatológicas em bijupirás infectados por Amyloodinium ocellatum. Um grupo de 27 peixes foi anestesiado para coleta de amostras de sangue e eutanasiados para coleta de muco e fragmentos de tecido cutâneo e branquial. Foram avaliadas a prevalência e a intensidade parasitária da infecção, assim como os valores de parâmetros hematológicos e alterações histopatológicas. A prevalência parasitária nas brânquias foi de 100% e no muco foi de 80,8% e as intensidades parasitárias médias foram de 683,5 nas brânquias, e 67,1 no muco cutâneo. Os valores médios dos parâmetros hematológicos foram: eritrócitos 4,3x10(6)µL; VG 26%; VGM 64,2fL; proteína plasmática 5,8mg/dL; trombócitos 5,2 x10³/µL e leucócitos 3,6 x10³/µL. Além disso, foram verificadas hiperplasia do epitélio respiratório acompanhada de fusão lamelar, descolamento do epitélio, dilatação do seio venoso, formação de aneurisma, ruptura do epitélio lamelar, hemorragia, necrose, reação inflamatória linfocítica. O parasito foi observado nas lamelas branquiais, o VMA variou do grau discreto ao severo e o IAH foi de 76,8. A pesquisa assume importância por se tratar dos primeiros estudos em Rachycentron canadum, um peixe que se destaca com potencial ao cultivo.

The aim of this study was to describe the hematological parameters and histopathologic alterations in cobia infected by Amyloodinium ocellatum. A group of 27 fish were anesthetized to collect blood samples and euthanatized to collect mucus and tissue fragments of skin and gills. The prevalence and parasitic intensity of the infection, besides hematologic parameters and histopathologic alterations, was measured. Parasite prevalence in the gills was 100% and in the mucus 80.8%, and the average intensity of infection in gills and skin was 683.5 e 67.1 respectively. The mean values of hematological parameters were: erythrocytes 4.3x10(6)μL; PCV 26%, MCV 64.2 fL, plasma protein 5.8mg/dL, thrombocytes 5.2x10³/μL and leukocytes 3.6x10³/μL . Furthermore was found hyperplasia of the respiratory epithelium accompanied by lamellar fusion, detachment of the epithelium, venous sinus dilatation, aneurysm formation and rupture of the lamellar epithelium, hemorrhage, necrosis and lymphocytic inflammatory reaction. The parasite was observed between the gills lamellae, the AMV ranged from mild to severe and AHI values were 76.8. The study assumes importance because it is the first study in Rachycentron canadum, a fish that stands out with potential for growing.

Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding. Mutations in the SRY HMG-box affect protein function, causing sex reversal phenotypes. In the present study, we describe a 19-year-old female presenting 46,XY karyotype with hypogonadism and primary amenorrhea that led to the diagnosis of 46,XY complete gonadal dysgenesis. The novel p.E89K missense mutation in the SRY HMG-box was identified as a de novo mutation. Electrophoretic mobility shift assays showed that p.E89K almost completely abolished SRY DNA-binding activity, suggesting that it is the cause of SRY function impairment. In addition, we report the occurrence of the p.G95R mutation in a 46,XY female with complete gonadal dysgenesis. According to the three-dimensional structure of the human SRY HMG-box, the substitution of the conserved glutamic acid residue by the basic lysine at position 89 introduces an extra positive charge adjacent to and between the positively charged residues R86 and K92, important for stabilizing the HMG-box helix 2 with DNA. Thus, we propose that an electrostatic repulsion caused by the proximity of these positive charges could destabilize the tip of helix 2, abrogating DNA interaction.

The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation. In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis. In order to evaluate their role in abnormal testicular organogenesis, we screened for SRY and WT1 gene mutations in 10 children with XY partial gonadal dysgenesis, 2 of whom with a history of Wilms' tumor. The open reading frame and 360 bp of the 5' flanking sequence of the SRY gene, and the ten exons and intron boundaries of the WT1 gene were amplified by PCR of genomic DNA. Single-strand conformation polymorphism was initially used for WT1 mutation screening. Since shifts in fragment migration were only observed for intron/exon 4, the ten WT1 exons from all patients were sequenced manually. No mutations were detected in the SRY 5' untranslated region or within SRY open-reading frame sequences. WT1 sequencing revealed one missense mutation (D396N) in the ninth exon of a patient who also had Wilms' tumor. In addition, two silent point mutations were found in the first exon including one described here for the first time. Some non-coding sequence variations were detected, representing one new (IVS4+85A>G) and two already described (-7ATG T>G, IVS9-49 T>C) single nucleotide polymorphisms. Therefore, mutations in two major genes required for gonadal development, SRY and WT1, are not responsible for XY partial gonadal dysgenesis.