974 resultados para Pre-implantation genetic diagnosis
Resumo:
Quantitative analysis of growth genetic parameters is not available for many breeds of buffaloes making selection and breeding decisions an empirical process that lacks robustness. The objective of this study was to estimate heritability for birth weight (BW), weight at 205 days (W205) and 365 days (W365) of age using Bayesian inference. The Brazilian Program for Genetic Improvement of Buffaloes provided the data. For the traits BW, W205 and W365 of Brazilian Mediterranean buffaloes 5169, 3792 and 3883 observations have been employed for the analysis, respectively. In order to obtain the estimates of variance, univariate analyses were conducted using the Gibbs sampler included in the MTGSAM software. The model for BW, W205 and W365 included additive direct and maternal genetic random effects, random maternal permanent environmental effect and contemporary group that was treated as a fixed effect. The convergence diagnosis was performed employing Geweke, a method that uses an algorithm from the Bayesian Output Analysis package that was implemented using R software environment. The average values for weight traits were 37.6 +/- 4.7 kg for BW, 192.7 +/- 40.3 kg for W205 and 298.6 +/- 67.4 kg for W365. The heritability posterior distributions for direct and maternal effects were symmetric and close to those expected in a normal distribution. Direct heritability estimates obtained using the modes were 0.30 (BW), 0.52 (W205) and 0.54 (W365). The maternal heritability coefficient estimates were 0.31, 0.19 and 0.21 for BW, W205 and W365, respectively. Our data suggests that all growth traits and mainly W205 and W365, have clear potential for yield improvement through direct genetic selection.
Resumo:
The objective of the study was to estimate heritability and repeatability for milk yield (MY) and lactation length (LL) in buffaloes using Bayesian inference. The Brazilian genetic improvement program of buffalo provided the data that included 628 females, from four herds, born between 1980 and 2003. In order to obtain the estimates of variance, univariate analyses were performed with the Gibbs sampler, using the MTGSAM software. The model for MY and LL included direct genetic additive and permanent environment as random effects, and contemporary groups, milking frequency and calving number as fixed effects. The convergence diagnosis was performed with the Geweke method using an algorithm implemented in R software through the package Bayesian Output Analysis. Average for milk yield and lactation length was 1,546.1 +/- 483.8 kg and 252.3 +/- 42.5 days, respectively. The heritability coefficients were 0.31 (mode), 0.35 (mean) and 0.34 (median) for MY and 0.11 (mode), 0.10 (mean) and 0.10 (median) for LL. The repeatability coefficient (mode) were 0.50 and 0.15 for MY and LL, respectively. Milk yield is the only trait with clear potential for genetic improvement by direct genetic selection. The repeatability for MY indicates that selection based on the first lactation could contribute for an improvement in this trait.
Resumo:
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Resumo:
Background: Iran is an area of particular interest for investigating goat diversity. Archaeological remains indicate early goat domestication (about 10 000 years ago) in the Iranian Zagros Mountains as well as in the high Euphrates valley and southeastern Anatolia. In addition, mitochondrial DNA data of domestic goats and wild ancestors (C. aegagrusor bezoar) suggest a pre-domestication management of wild populations in southern Zagros and central Iranian Plateau. In this study genetic diversity was assessed in seven Iranian native goat breeds, namely Markhoz, Najdi, Taleshi, Khalkhali, Naini, native Abadeh and Turki-Ghashghaei. A total of 317 animals were characterized using 14 microsatellite loci. Two Pakistani goat populations, Pahari and Teddy, were genotyped for comparison.Results: Iranian goats possess a remarkable genetic diversity (average expected heterozygosity of 0.671 across loci, 10.7 alleles per locus) mainly accounted for by the within-breed component (G(ST) = 5.9%). Positive and highly significant F-IS values in the Naini, Turki-Ghashghaei, Abadeh and Markhoz breeds indicate some level of inbreeding in these populations. Multivariate analyses cluster Iranian goats into northern, central and western groups, with the western breeds relatively distinct from the others. Pakistani breeds show some relationship with Iranian populations, even if their position is not consistent across analyses. Gene flow was higher within regions (west, north, central) compared to between regions but particularly low between the western and the other two regions, probably due to the isolating topography of the Zagros mountain range. The Turki-Ghashghaei, Najdi and Abadeh breeds are reared in geographic areas where mtDNA provided evidence of early domestication. These breeds are highly variable, located on basal short branches in the neighbor-joining tree, close to the origin of the principal component analysis plot and, although highly admixed, they are quite distinct from those reared on the western side of the Zagros mountain range.Conclusions: These observations call for further investigation of the nuclear DNA diversity of these breeds within a much wider geographic context to confirm or re-discuss the current hypothesis (based on maternal lineage data) of an almost exclusive contribution of the eastern Anatolian bezoar to the domestic goat gene pool.
Resumo:
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Resumo:
Background: Dioctophyma renale is a large nematode distributed worldwide that may cause progressive and severe destruction of renal parenchyma.Objectives: The present study aimed to evaluate pre- and post-operatively dogs submitted to right nephrectomy due to D. renale and to assess the histopathological damage of the removed kidney.Animals and methods: Eight crossbred dogs, aged from 12 to 48 months that were unilaterally nephrectomized due to the presence of D. renale were evaluated. Physical examination, urinalysis, complete blood count, serum biochemistry, and abdominal ultrasound were performed immediately before and one month after nephrectomy. The nephrectomized right kidneys were submitted to macroscopic and microscopic evaluations.Results: Urinalysis preoperatively detected occult blood in all dogs and D. renale eggs in five cases. Complete blood count showed all parameters within the reference range, except one dog post-operatively. Serum biochemistry performed before and after surgery verified that urea, creatinine and sodium were within the reference range values in all dogs. Other findings varied among the dogs. The length and arterial resistive index mean values of the left kidney were similar pre- and post-operatively.Conclusions: Thus, the inconsiderable change in laboratory findings pre- and post-operatively was attributable to compensation by left kidney function for the removed abnormal right kidney. Right kidney histology revealed chronic nephropathy due to D. renale.Clinical importance: Imaging diagnosis should be performed on dogs suspected as carrying the disease or on those from an enzootic area since the laboratory findings are not specific except eggs in the urine.
Resumo:
Experimental models are necessary to elucidate pathophysiological mechanisms not yet understood in humans. To evaluate the repercussions of the diabetes, considering two methodologies, on the pregnancy of Wistar rats and on the development of their offspring. In the 1st induction, female offspring were distributed into two experimental groups: Group streptozotocin (STZ, n=67): received the β-cytotoxic agent (100mg STZ/kg body weight - sc) on the 1st day of the life; and Non-diabetic Group (ND, n=14): received the vehicle in a similar time period. In the adult life, the animals were mated. After a positive diagnosis of pregnancy (0), female rats from group STZ presenting with lower glycemia than 120 mg/dL received more 20 mg STZ/kg (ip) at day 7 of pregnancy (2nd induction). The female rats with glycemia higher than 120mg/dL were discarded because they reproduced results already found in the literature. In the mornings of days 0, 7, 14 and 21 of the pregnancy glycemia was determined. At day 21 of pregnancy (at term), the female rats were anesthetized and killed for maternal reproductive performance and fetal development analysis. The data were analyzed using Student-Newman-Keuls, Chi-square and Zero-inflated Poisson (ZIP) Tests (p<0.05). STZ rats presented with increased rates of pre (STZ=22.0%; ND=5.1%) and post-implantation losses (STZ=26.1%; ND=5.7%), reduced rates of fetuses with appropriate weight for gestational age (STZ=66%; ND=93%) and reduced degree of development (ossification sites). Conclusion: Mild diabetes led a negative impact on maternal reproductive performance and caused intrauterine growth restriction and impaired fetal development
Resumo:
The aim of this study was to compare the following four genetic groups of hair sheep: Santa Inês (SI), Morada Nova (MN), Brazilian Somali (BS), and the F1 1/2Dorper x 1/2Morada Nova crossbreed on traits related to growth and parasitic infection. Thirty-three male lambs of the same age and of simple birth, under the same pre-weaning management conditions were used in the experiment. After weaning the animals were housed in a completely randomized design in paddocks made of Panicum maximum cv. Tanzania. Along the course of the research, the performance of the four groups of sheep was observed to be negatively affected by gastrointestinal parasites, but there was a genotype effect to the average daily weight gain (ADWG), where the SI and F1 genotypes presented higher values. The effects of genotype, time and genotype x time interaction were significant in weight and corporal score (CS) measurements. The BS lambs had the highest CS values throughout the experiment despite not presenting greater weight gain when compared to the SI and F1 breeds. There were also significant effects of time and genotype x time interaction for packed cell volume (PCV) and FAMACHA© score (FAM) and only the time effect was significant in the total number of eggs per gram (EPG) and total plasma protein (TPP). The MN lambs showed higher PCV values and unlike the other groups, presented a FAMACHA© score below 3 and PCV above 23% even having a higher EPG tendency, especially in the initial phase, indicating a possible higher resilience to infection caused by gastrointestinal parasites.
Resumo:
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Resumo:
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Resumo:
The Cornélia of Lange´s syndrome is a genetic anomaly, described and published by Cornelia Catharina of Lange in 1933, however, their aspects were described previously by Winfried Robert Clemens Brechmann in 1916, that’s why it is also known as Brachmann of Lange’s syndrome. The most frequent clinical characteristics include typical face dismorfia, variable degree of mental delay, anomalies of the hands and feet, multiple malformations, retardation of the pre and postnatal physical development and microcephaly variable intellectual compromising. Some facial characteristics are peculiar and they are mixed with the inherited lines of their own family, the united brows, the long lashes, the small nose, the round face, the fine lips and lightly inverted. As oral manifestations they present micrognathia, dental crowding, periodontal disease, delayed dental eruption, enamel hypoplasia, erosion of the enamel and dentine caused by stomach acids of the gastroesophageal reflux and atresia of the dental arches. The purpose of this paper is to present a clinical report of a boy bearer of this syndrome assisted at CAOE - FOA - UNESP, emphasizing the importance of multiprofessional team for the diagnosis and treatment of this syndrome.
Resumo:
Effective pedagogical practices for teaching Nanoscience and Nanotechnology in the pre-university education are suggested. The proposals are based on the scientific and didactical experience of the authors, on the study of the available literature and on a diagnosis of the knowledge and interest of the students. Which was conducted at a pre-university school in the city of Bauru, SP, Brazil.
Resumo:
Purpose: To assess visual outcomes and patient satisfaction following implantation of the Sulcoflex® multifocal intraocular lens (IOL; Rayner Intraocular Lenses Ltd., Hove, UK) in a procedure combining capsular bag lens implantation with sulcus placement of the Sulcoflex® IOL. Setting: Instituto de Oftalmologia de Assis, Assis, SP, Brazil. Methods: Cataract patients > 45 years, with hyperopia ≥ 1.50 D and potential acuity measurement ≥ 20/30 undergoing Sulcoflex® multifocal IOL implantation were included. Monocular and binocular uncorrected near and distance visual acuity (VA) were evaluated at five days, one month, and three months postoperatively. Contrast sensitivity and refraction were measured in a subset of patients three months postoperatively. Patient satisfaction was assessed one month postoperative. Results: This non-consecutive case series comprised 25 eyes of 13 patients. Eleven eyes (52%) had pre-existing retinal pathologies. Monocular distance VA improved significantly at all follow-up visits. At final follow-up, 88% of eyes had monocular uncorrected distance VA (UDVA) of at least 20/25 and 24% had monocular UDVA of 20/20. All eyes had binocular UDVA of at least 20/25, and 58% had binocular UDVA of 20/20. Monocular uncorrected near vision (UNVA) was J1 in 68% of eyes and all patients had binocular UNVA of J1. Of all eyes studied, 92% and 58% achieved a spherical equivalent within 1 D and −0.5 D, respectively. The majority of patients reported satisfaction with visual outcomes. Complications included a postoperative intraocular pressure spike in four eyes. Conclusion: The Sulcoflex® multifocal IOL improves near and distance VA in cataract patients with retinal abnormalities and good VA potential.
Resumo:
Malignant triton tumor (MTT) is an aggressive peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Less than 100 cases have been described, being mostly male children with type 1 neurofibromatosis. We report a 6-year-old female with MTT and no diagnostic criteria for neurofibromatosis type 1. Cytogenetic analysis showed a 46,X,-X[4]/46,XX[16] karyotype. She underwent a transfemoral amputation and chemotherapy and is free of disease 15 months after diagnosis. The few cytogenetic studies of MTT described in the literature have been inconclusive. Further cytogenetic analyses are needed to understand the role of chromosome X monosomy in the pathogenesis of this rare tumor. Pediatr Blood Cancer 2012; 59: 13201323. (C) 2012 Wiley Periodicals, Inc.
Resumo:
Background: Cardiovascular disease is an important cause of death in patients on dialysis. Peripheral arterial disease (PAD) is a prognostic factor for cardiovascular disease. The ankle brachial index (ABI) is a noninvasive method used for the diagnosis of PAD. The difference between ABI pre- and post-dialysis had not yet been formally tested, and it was the main objective of this study. Methods:The ABI was assessed using an automated oscillometric device in incident patients on hemodialysis. All blood pressure readings were taken in triplicate pre- and post-dialysis in three consecutive dialysis sessions (times 1, 2, and 3). Results: One hundred and twenty-three patients (85 men) aged 53 +/- 19 years were enrolled. We found no difference in ABI pre- and post-dialysis on the right or left side, and there was no difference in times 1, 2, and 3. In patients with a history of PAD, the ABI pre- versus post-dialysis were of borderline significance on the right side (p = 0.088). Conclusion: ABI measured pre- and post-dialysis presented low variability. The ABI in patients with a history of PAD should be evaluated with caution. The applicability of the current method in predicting mortality among patients on hemodialysis therefore needs further investigation. Copyright (C) 2012 S. Karger AG, Basel