Autism spectrum disorder in a girl with a de novo x;19 balanced translocation

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.

Cross-sensitization between testosterone and cocaine in adolescent and adult rats

Cocaine and anabolic-androgenic steroids are substances commonly co-abused. The use of anabolic steroids and cocaine has increased among adolescents. However, few studies investigated the consequences of the interaction between anabolic-androgenic steroids in animals' model of adolescence. We examined the effects of acute and repeated testosterone administration on cocaine-induced locomotor activity in adult and adolescent rats. Rats received ten once-daily subcutaneous (s.c.) injections of testosterone (10mg/kg) or vehicle. Three days after the last testosterone or vehicle injections rats received an intraperitoneal (i.p.) challenge injection of either saline or cocaine (10mg/kg). A different subset of rats was treated with a single injection of testosterone (10mg/kg) or vehicle and three days later was challenged with cocaine (10mg/kg, i.p.) or saline. Immediately after cocaine or saline injections the locomotor activity was recorded during forty minutes. Our results demonstrated that repeated testosterone induced locomotor sensitization to cocaine in adolescent but not adult rats.

Maternal separation on the ethanol-preferring adult rat liver structure

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

A critical review of the properties of fusidic acid and the analytical methods for its determination

Fusidic acid, an antibiotic produced from the Fusidium coccineum fungus, belongs to the class of steroids, but has no corticosteroid effects. It is indicated for the treatment of infections caused by methicillin-resistant Staphylococcus aureus strains. The aim of this study was to search for the properties of fusidic acid published so far in the literature, as well as the methods developed for its determination in biological samples and pharmaceutical formulations. From the findings, we can conclude that fusidic acid has been used for decades and is indicated for the treatment of serious infections caused by Gram-positive microorganisms to this day. Furthermore, it is a hypoallergenic agent, has low toxicity, shows low resistance, and has no cross-resistance with other clinically used antibiotics. The analytical method of high-performance liquid chromatography has been widely used, since it can reduce the cost and time of analysis, making it more viable for routine quality control in the pharmaceutical industry.

The effects of temperature and busulfan (Myleran) on the yellowtail tetra Astyanax altiparanae (Pisces, Characiformes) spermatogenesis

We aimed to standardize a protocol to suppress spermatogenesis in the characiform fish, Astyanax altiparanae, for future use as a host in germ cell transplant research, opening opportunities for a range of studies, such as spermatogenesis analyses and transgenesis because this species presents livestock characteristics to be used as a biological model. The effects of the chemotherapeutic busulfan (formulated as Myleran), which is used as medicine, therefore not as toxic to humans manipulation as analytical grade busulfan (Fluka) used in previous studies, were evaluated at physiological temperature of 28 °C, ideal for growth and reproduction of A altiparanae, and also at increased temperature 35 °C. The temperature groups were divided into three treatment groups: busulfan, DMSO only, and an untreated control. Macroscopic, histologic, stereological, and ultrastructure analysis showed that, at 28 °C, busulfan did not cause depletion of germ cells in A altiparanae. However, at 35 °C, sterilization was observed 3 weeks after the initial application. Similar results were obtained with maintenance of fish at 35 °C for a longer period with no accompanying Myleran treatment. This procedure allows reduction in stress and lower mortality resulting from manipulation during busulfan injection and is also suitable for mass treatment because large numbers of fish can be incubated in warm water.

Activity of neurons in the preoptic area and their participation in reproductive senescence: preliminary findings

Alterations in the hypothalamic-pituitary-gonadal axis in females determine the transition from regular to irregular reproductive cycles, with loss of fertility. Stimulation of noradrenergic neurons of the anteroventral periventricular neurons (AVPV) is essential for regular reproductive cycles. Therefore, we examined the activity of neurons of the AVPV and measure the noradrenaline (NE) of acyclic rats, in constant estrus, and compared it with that of cyclic rats in estrus. Female cyclic (4-5months) and acyclic (17-18months) rats were euthanized at 10, 14, and 18h in estrus. Brains were processed for immunoreactivity to antigens related to Fos (FRA) in AVPV, and the NE was determined by HPLC-ED. Plasma concentrations of LH, FSH, E2 and P4 were determined. In the acyclic animals, plasma LH was higher but the FSH was lower. There was decreasing P4 at different times, while the E2 was constant and lower in acyclic rats. FRA-ir expression in AVPV neurons of acyclic rats as well as turnover of NE was higher when compared with cyclic group. The preliminary findings showed increased activity in AVPV neurons in aging contribute to changes in the temporal pattern of neuroendocrine signaling, compromising the accuracy of inhibitory and stimulatory effects, causing irregularity in the estrous cycle and determining reproductive senescence.

Identification of the molecular sex-differentiation period in the siberian sturgeon

Sexual development prior to gonadal sex differentiation is regulated by various molecular mechanisms. In fish, a molecular sex-differentiation period has been identified in species for which sex can be ascertained prior to gonadal sex differentiation. The present study was designed to identify such a period in a species for which no genetic sex markers or monosex populations are available. Siberian sturgeons undergo a slow sex-differentiation process over several months, so gonad morphology and gene expression was tracked in fish from ages 3-27 months to identify the sex-differentiation period. The genes amh, sox9, and dmrt1 were selected as male gonad markers; cyp19a1a and foxl2a as female gonad markers; and cyp17a1 and ar as markers of steroid synthesis and steroid receptivity. Sex differentiation occurred at 8 months, and was preceded by a molecular sex-differentiation period at 3-4 months, at which time all of the genes except ar showed clear expression peaks. amh and sox9 expression seemed to be involved in male sexual development whereas dmrt1, a gene involved in testis development in metazoans, unexpectedly showed a pattern similar to those of the genes known to be involved in female gonadal sex differentiation (cyp19a1 and foxl2a). In conclusion, the timing of and gene candidates involved with molecular sex differentiation in the Siberian sturgeon were identified. Mol. Reprod. Dev. 2015. © 2015 Wiley Periodicals, Inc.

Tiouréia no desenvolvimento de girinos de rã-touro e no desempenho de animais pós-metamórficos

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

GnRH/GnIH e seus receptores no sistema olfato-retinal de zebrafish

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Fontes lipídicas e ácidos graxos essenciais no desenvolvimento ovariano e desempenho reprodutivo de jundiás Rhamdia quelen

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Atividade dos neurônios do núcleo anterovental periventricular e sua participação no envelhecimento reprodutivo de ratas

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Análise hormonal, imunolocalização e quantificação dos receptores de andrógenos (AR) e estrógenos (ER-α E ER-β) em ovário e útero de ratas submetidas a diferentes doses de decanoato de nandrolona: avaliação nos períodos pós-tratamento e pós-recuperação

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Insatisfação corporal e o uso de esteróides anabólicos em homens praticantes de musculação

We can see a current increase in individuals' body care in our society. What happened predominantly with the female audience, today also affects the male one. This increase has recently been linked to the required and exposed standards of beauty by the consumer's culture. The media reinforce this ideology by exhibiting non-fat, Strong bodies. This huge appreciation of beauty in our time has generated numerous disorders related to body image. The vigorexia is one of these disorders and it is predominantly characterized in men, and it has defined in the literature as muscle dysmorphic disorder. Such disorder is generated through a self-distorted perception of the body in which the individual sees his body smaller than it really is, and thereby creates various strategies to increase their body size. One of these strategies has been the use of anabolic androgenic steroids, such substances assist in muscle protein synthesis, thus leading to hypertrophy. Thus, the subjects are released for use with the sense to accelerate his path to the perfect body. Warning that the rampant use of anabolic-androgenic steroids can lead to serious health problems. So, this study is justified by the investigation of the mechanisms that act directly in the construction of body image and by the understanding of the aspects that guide the vigorexia and also how it's related to the use of androgenic anabolic steroids

Doping e suplementação no MMA: um estudo documental de caso

The first records of the use of substances that enhance athletic performance began in antiquity. The objective of this study is to analyze the use of doping methods and supplements by amateur athletes and MMA professionals and what motivates usage. The work consisted of desk research in which use of work carried out at fifteen amateur and professional athletes, which underwent a data collection; these athletes are all over eighteen years old, male and practicing MMA for at least two years. The questionnaire that they were submitted corresponded to ten multiple-choice questions, which are: Age, what type of fight practiced as a basis for MMA, how long practices martial arts, sees the sport of competitive or recreational way, has already made use dietary supplements, have made use of banned substances (steroids) in the sport, it has already made use of steroids which the substance used and to what end was done using, know the side effects of anabolic steroids, know one or more people who have already made use of steroids in order to increase their performance in the fight, he believes it is possible an athlete achieve success in modern MMA without the use of anabolic steroids. The results showed that, of the fifteen athletes interviewed, only two said they never made use of dietary supplements, and four said they have already made use of anabolic steroids. All fifteen athletes claim to know the side effects of steroid use, and 14 of them say they know one or more sport-mates who have already made use of steroids. Given the results, it can be concluded that the use of steroids is common in MMA

Feeding and reproductive dynamics of the damselfish, Stegastes fuscus in the coastal reefs of northeastern Brazil

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)