Análise de genes envolvidos na neurotransmissão, formação e manutenção sináptica em indivíduos com transtornos do espectro do Autismo

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

Incidência, fatores de risco e consequências de defeitos congênitos em recém-nascidos e natimortos

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Effect of himatanthus sucuuba in maternal reproductive outcome and fetal anomaly frequency in rats

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Principais complicações perinatais da obesidade e do sobrepeso pré-gestacionais

Objetive: The goal of this review is to discuss the evidence regarding the impact of pre-pregnancy overweight and obesity on perinatal outcomes. Data Collection Method: We conducted a search for articles in the Medline, PubMed and Scielo databases covering the past 5 years, and reviewed the bibliographical references contained in the articles selected. Articles were selected by subjective evaluation in terms of methodology, sample size and year of publication. Summary of evidence: We found strong evidence linking excess weight before pregnancy with the development of birth defects, fetal and neonatal deaths and macrosomia,. Conclusions: Excess weight in the pre-pregnancy is an important risk factor for the health of the fetus, whose importance increases because it is a modifiable risk factor.

Genotype by environment interaction for birth and weaning weights of composite beef cattle in different regions of Brazil

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

Covariance functions for body weight from birth to maturity in Nellore cows

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Random regression analyses using B-splines functions to model growth from birth to adult age in Canchim cattle

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis

The nuclear poly(A)-binding protein 1 (PABPN1) is a ubiquitously expressed protein that plays a critical role in polyadenylation. Short expansions of the polyalanine tract in the N-terminus of PABPN1 lead to oculopharyngeal muscular dystrophy (OPMD), which is an adult onset disease characterized by eyelid drooping, difficulty in swallowing and weakness in the proximal limb muscles. Although significant data from in vitro biochemical assays define the function of PABPN1 in control of poly(A) tail length, little is known about the role of PABPN1 in mammalian cells. To assess the function of PABPN1 in mammalian cells and specifically in cells affected in OPMD, we examined the effects of PABPN1 depletion using siRNA in primary mouse myoblasts from extraocular, pharyngeal and limb muscles. PABPN1 knockdown significantly decreased cell proliferation and myoblast differentiation during myogenesis in vitro. At the molecular level, PABPN1 depletion in myoblasts led to a shortening of mRNA poly(A) tails, demonstrating the cellular function of PABPN1 in polyadenylation control in a mammalian cell. In addition, PABPN1 depletion caused nuclear accumulation of poly(A) RNA, revealing that PABPN1 is required for proper poly(A) RNA export from the nucleus. Together, these experiments demonstrate that PABPN1 plays an essential role in myoblast proliferation and differentiation, suggesting that it is required for muscle regeneration and maintenance in vivo.

Pkc1 acts through Zds1 and Gic1 to suppress growth and cell polarity defects of a yeast eIF5A mutant

eIF5A is a highly conserved putative eukaryotic translation initiation factor that has been implicated in translation initiation, nucleocytoplasmic transport, mRNA decay, and cell proliferation, but with no precise function assigned so far. We have previously shown that high-copy PKCI suppresses the phenotype of tif51A-1, a temperature-sensitive mutant of eIF5A in S. cerevisiae. Here, in an attempt to further understand how Pkc1 functionally interacts with eIF-5A, it was determined that PKCI suppression of tif51A-1 is independent of the cell integrity MAP kinase cascade. Furthermore, two new suppressor genes, ZDS1 and GIC1, were identified. We demonstrated that ZDS1 and ZDS2 are necessary for PKC1, but not for GIC1 suppression. Moreover, high-copy GIC1 also suppresses the growth defect of a PKCI mutant (stt1), suggesting the existence of a Pkc1-Zds1-Gic1 pathway. Consistent with the function of Gic1 in actin organization, the tif51A-1 strain shows an actin polarity defect that is partially recovered by overexpression of Pkc1 and Zds1 as well as Gic1. Additionally, PCL1 and BNI1, important regulators of yeast cell polarity, also suppress tif51A-1 temperature sensitiviiy Taken together, these data strongly Support the correlated involvement of Pkc1 and eIF5A in establishing actin polarity, which is essential for bud formation and G1/S transition in S. cerevisiae.

Toward an understanding of intermediate- and short-range defects in ZnO single crystals. A combined experimental and theoretical study

A joint use of experimental and theoretical techniques allows us to understand the key role of intermediate- and short-range defects in the structural and electronic properties of ZnO single crystals obtained by means of both conventional hydrothermal and microwave-hydrothermal synthesis methods. X-ray diffraction, Raman spectra, photoluminescence, scanning electronic and transmission electron microscopies were used to characterize the thermal properties, crystalline and optical features of the obtained nano and microwires ZnO structures. In addition, these properties were further investigated by means of two periodic models, crystalline and disordered ZnO wurtzite structure, and first principles calculations based on density functional theory at the B3LYP level. The theoretical results indicate that the key factor controlling the electronic behavior can be associated with a symmetry breaking process, creating localized electronic levels above the valence band.

Treatment of segmental tibial defects using acute bone shortening followed by gradual lengthening with circular external fixator

The aim of this study was to clinically and radiographically evaluate acute bone shortening followed by gradual lengthening in the treatment of large segmental tibia defects induced in seven clinically normal dogs. A circular external fixator was assembled with one proximal 5/8-circle ring, one middle ring and one distal ring connected with three rods. Thirty per cent of the tibia and fibula were removed in the middle and distal parts of the diaphyses, between the middle and distal rings. Acute bone shortening with compression of proximal and distal segments was performed. A subperiosteal osteotomy was performed between the half-ring and middle ring. Bone distraction started 7 days after surgery; after lengthening, the apparatus was left in place for 14 weeks for consolidation of regenerated bone. The frame was removed at the end of this period, and the dogs observed for four more weeks. Functional results were considered excellent in two, good in three and fair in the other two dogs. Bone regeneration within the distraction gap was obtained 14 weeks after neutral fixation period. We concluded that acute bone shortening followed by gradual lengthening by Ilizarov method can be used to treat extensive tibial defects in dogs, although it presents limb temporary abnormal limb shape and unequal length as early disadvantages.

Hipotireoidismo congênito: recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia

O hipotireoidismo congênito (HC) é o distúrbio endócrino congênito mais frequente, com incidência variando de 1:2.000 a 1:4.000 crianças nascidas vivas e uma das principais causas de retardo mental que pode ser prevenida. Os Programas de Triagem Neonatal para a doença permitem a identificação precoce dos afetados e seu tratamento de modo a evitar as complicações da falta do hormônio. A maioria dos casos de hipotireoidismo congênito é decorrente de disgenesias tireoidianas (85%), entre elas a ectopia, hipoplasia ou agenesia tireoidianas, e os demais resultam de defeitos de síntese hormonal. As crianças afetadas (> 95%) geralmente não apresentam sintomas sugestivos da doença ao nascimento. Os sintomas e sinais mais comuns são: icterícia neonatal prolongada, choro rouco, letargia, movimentos lentos, constipação, macroglossia, hérnia umbilical, fontanelas amplas, hipotonia e pele seca. Várias estratégias são utilizadas para a triagem do HC. No Brasil, esta é obrigatória por lei e geralmente é feita com a dosagem de TSH em sangue seco coletado do calcanhar. A idade recomendada para sua realização é após as 48 horas de vida até o quarto dia. A confirmação diagnóstica é obrigatória com as dosagens de TSH e T4 livre ou T4 total.

Acquisition of motor abilities up to independent walking in very low birth weight preterm infants

Objective: To determine chronological and corrected ages at acquisition of motor abilities up to independent walking in very low birth weight preterms and to determine up to what point it is necessary to use corrected age.Methods: This was a longitudinal study of preterms with birth weight < 1,500 g and gestational age <= 34 weeks, free from neurosensory sequelae, selected at the high-risk infants follow-up clinic at the Hospital das Clinicas, Faculdade de Medicine de Botucatu, Universidade Estadual Paulista (UNESP) in Botucatu, Brazil, between 1998 to 2003, and assessed every 2 months until acquisition of independent walking.Results: Nine percent of the 155 preterms recruited were excluded from the study, leaving a total of 143 patients. The mean gestational age was 30 +/- 2 weeks, birth weight was 1,130 +/- 222 g, 59% were female and 44% were small for gestational age. Preterms achieved head control in their second month, could sit independent at 7 months and walked at 12.8 months' corrected age, corresponding to the 4th, 9th and 15th months of chronological age. There were significant differences between chronological age and corrected age for all motor abilities. Preterms who were small for their gestational age acquired motor abilities later, but still within expected limits.Conclusions: Very low birth weight preterms, free from neurosensory disorders, acquired their motor abilities within the ranges expected for their corrected ages. Corrected age should be used until independent walking is achieved.

Evaluation of neonatally-induced mild diabetes in rats: Maternal and fetal repercussions

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

The possible role of selenium status in adverse pregnancy outcomes

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)