Assessment of single-nucleotide variant discovery protocols in RNA-seq data from human cells exposed to mycotoxins.

Food and feed contamination by nonlegislated mycotoxins beauvericin (BEA) and enniatin B (ENB) is a worldwide health concern in the present. The principal objective of this work is to assess some of the existing protocols to discover the single nucleotide variants (SNVs) in transcriptomic data obtained by RNA-seq from Jurkat cells in vitro samples individually exposed to BEA and ENB at three concentration levels (1.5, 3 and 5 µM). Moreover, previous transcriptomic results will be compared with new findings obtained using a different protocol. SNVs rs201003509 in BEA exposed cells and the rs36045790 in ENB were found in the differentially expressed genes in all doses compared to controls by means of the Genome Analysis Toolkit (GATK) Best Practices workflow. SNV-RNA-seq complementary pipeline did not show any SNV. Concerning gene expression, discrepant results were found for 1.5 µM BEA exposed cells compared with previous findings. However, 354 overlapped differentially expressed genes (DEGs) were identified in the three ENB concentrations used, with 147 matches with respect to the 245 DEGs found in the previous results. In conclusion, the two discovery SNVs protocols based on variant calling from RNA-seq used in this work displayed very different results and there were SNVs found manually not identified by any pipeline. Additionally, the new gene expression analysis reported comparable but non identical DEGs to the previous transcriptomic results obtained from these RNA-seq data.

Prediction of reparability of meniscal tears in athletes using magnetic resonance.

Meniscal tears account for approximately 15% of all knee injuries and almost 25% of them require surgical procedures. Magnetic Resonance Imaging (MRI) is widely used for noninvasive assessment of the knee joint and is considered reliable and a powerful tool for the detection of soft tissue injuries of the knee. The aim of the study was to evaluate the sensitivity, specificity, and accuracy of magnetic resonance imaging (MRI) to predict the meniscal tears repair in sports practitioners. 104 incoming consecutive patients who underwent knee joint ligament reconstruction and/or arthroscopy for the treatment of meniscal injury at knee joint were imaged using a 1.5-T MRI scanner prior to arthroscopy. MRI images were evaluated for anterior cruciate ligament (ACL), articular cartilage, and meniscal injury. Images were correlated with arthroscopic findings, used as the gold standard. The sensitivity, specificity, and accuracy of MRI in predicting meniscal repair were 61.1%, 65.94%, and 64.58%, respectively. The agreement between MRI and arthroscopy yielded a kappa index of 0.236, indicating fair agreement. When the menisci were evaluated separately, 65.85% sensitivity, 45.45% specificity, and 54.16% accuracy were found for the medial meniscus, while 46.15%, 79.51%, and 75.0% for the lateral meniscus, respectively. The accuracy was 62.09% in whose patients that arthroscopy was performed up to 3 months after MRI and 67.18% in those that this time frame was more than 3 months before surgery. The 54 meniscal injuries occurred more frequently in the posterior horn; most injuries had a longitudinal pattern and were located in the red-red (vascular) zone. We suggest that magnetic resonance imaging is only moderately accurate for the prediction of meniscus reparability.

EPDR1 up-regulation in human colorectal cancer is related to staging and favours cell proliferation and invasiveness.

The finding of novel molecular markers for prediction or prognosis of invasiveness in colorectal cancer (CRC) constitutes an appealing challenge. Here we show the up-regulation of EPDR1 in a prospective cohort of 101 CRC patients, in a cDNA array of 43 patients and in in silico analyses. EPDR1 encodes a protein related to ependymins, a family of glycoproteins involved in intercellular contacts. A thorough statistical model allowed us to conclude that the gene is significantly up-regulated in tumour tissues when compared with normal mucosa. These results agree with those obtained by the analysis of three publicly available databases. EPDR1 up-regulation correlates with the TNM staging parameters, especially T and M. Studies with CRC cell lines revealed that the methylation of a CpG island controls EPDR1 expression. siRNA knocking-down and overexpression of the gene following transient plasmid transfection, showed that EPDR1 favours cell proliferation, migration, invasiveness and adhesion to type I collagen fibres, suggesting a role in epithelial to mesenchymal transition. Both statistical and functional analysis correlated EPDR1 overexpression with invasiveness and dissemination of tumour cells, supporting the inclusion of EPDR1 in panels of genes used to improve molecular subtyping of CRC. Eventually, EPDR1 may be an actionable target.

Time since menopause, but not age, is associated with increased risk of osteoporosis.

Objectives: This study aimed to determine whether estrogen deficiency is a sole risk factor for osteoporosis or is also associated with age, through indicators such as gender, age, and time since menopause. Methods: A cross-sectional study was conducted evaluating 938 postmenopausal women who underwent bone mineral densitometry. We collected the following data: age, ethnic group, body mass index, smoking, and time since menopause. These data were correlated to the presence of osteoporosis, according to the T-score of the femur and lumbar spine. Results: The prevalence of osteoporosis was 37.8%. Ethnic group (p = 0.47) and smoking habits (p = 0.19) were not associated with osteoporosis. In the group of women with osteoporosis, mean age was significantly higher (p < 0.001), mean body mass index was significantly lower (p < 0.001), and time since menopause was significantly higher (p < 0.001) than in the group of women with no osteoporosis. After multivariate analysis was performed, the only variables that remained independently associated with osteoporosis were body mass index and time since menopause. Higher body mass index was a protective factor (odds ratio = 0.80 [95% confidence interval 0.76; 0.84], p < 0.001). Time since menopause represented a risk factor for osteoporosis (odds ratio = 1.04 [1.02; 1.06], p < 0.001). When divided into categories, the risk increased after 20 years of menopause and gradually every 5 years. Conclusion: Time since menopause and body mass index were the most important factors associated with osteoporosis, confirming that estrogen deficiency, and not age, is the major cause of the disease.

Morphoagronomic and molecular profiling of Capsicum spp from southwest Mato Grosso, Brazil.

The genus Capsicum ranks as the second most exported vegetable in Brazil, which is also considered to be a center of diversity for this genus. The aim of this study was to rescue genetic variability in the genus Capsicum in the southwest region of Mato Grosso, and to characterize and estimate the genetic diversity of accessions based on morphoagronomic descriptors and inter-simple sequence repeat molecular markers. Data were obtained following the criteria of the International Plant Genetic Resources Institute, renamed Bioversity International for Capsicum. Data were analyzed using different multivariate statistical techniques. An array of binary data was used to analyze molecular data, and the arithmetic complement of the Jaccard index was used to estimate the genetic dissimilarity among accessions. Six well-defined groups were formed based on the morphological characterization. The most divergent accessions were 142 and 126, with 125 and 126 being the most similar. The groups formed following agronomic characterization differed from those formed by morphological characterization, and there was a need to subdivide the groups for better distinction of accessions. Based on molecular analysis, accessions were divided into two groups, and there was also a need to subdivide the groups. Based on joint analysis (morphological + agronomic + molecular), six groups were formed with no duplicates. For all groups, the cophenetic correlation coefficient was higher than 0.8. These results provide useful information for the better management of the work collection. All correlations between the combined distance matrix were significant by the Mantel test.

DGAT1 K232A polymorphism in Brazilian cattle breeds.

Recent reports identified DGAT1 (EC 2.3.1.20) harboring a lysine to alanine substitution (K232A) as a candidate gene with a strong effect on milk production traits. Our objective was to estimate the frequency of the DGAT1 K232A polymorphism in the main Zebu and Taurine breeds in Brazil as well as in Zebu x Taurine crossbreds as a potential QTL for marker-assisted selection. Samples of 331 animals from the main Brazilian breeds, Nellore, Guzerat, Red Sindhi, Gyr, Holstein, and Gyr x Holstein F1 were genotyped for DGAT1 K232A polymorphism (A and K alleles) using the PCR-RFLP technique. The highest frequency of the A allele was found in the Holstein sample (73%) followed by Gyr x Holstein F1 (39%). Gyr and Red Sindhi showed low frequencies of A alleles (4 and 2.5%, respectively). The A allele was not found in the Nellore and Guzerat samples. Our results could be used to guide association studies between this locus and milk traits in these breeds.

Association of BoLA-DRB3.2 alleles with tick (Boophilus microplus) resistance in cattle.

Losses caused by bovine tick burdens in tropical countries have a tremendous economic impact on production systems. Besides reducing production, this parasite can cause death in the most susceptible animals. The use of commercial acaricides has been the major method of control, but their misuse has led to tick resistance to many chemicals. More recently, vaccines have been used in some countries without solving the problem completely. An alternative could be the development of resistant animals and the use of genetic markers and candidate genes that could help with the enormous task of selecting resistant animals. The bovine lymphocyte antigen genes (BoLA) have been shown to be associated with some parasitic infestations and disease incidence. Thus, the objective of the present study was to determine the association of BoLA-DRB3.2 alleles with tick resistance in cattle. The study was conducted on 231 F2 (Gyr x Holstein) animals that were artificially infested with 10,000 tick larvae. Log of tick count +1 was used as the dependent variable in a mixed animal model with allele substitution effects in addition to fixed effects of year and season at tick count, sex of calves, age of animal at tick count, hair type (short-straight, short-curl, long-straight, and long-curl), coat color (white, >75% white, 50- 75% white, and 25-50% white), and additive genetic, permanent environmental and residual effects as random. Females showed fewer ticks than males. Animals with short-straight hair were more resistant to tick infestation than animals with long-curl hair, and animals with whiter coat color also had fewer ticks. An association between BoLA alleles and lower tick number was found for alleles DRB3.2 *18, *20 and *27 at the 5% significance level. Also, one allele (DRB3.2*16) showed an association at the 10% level. Allele *27 was the most frequent in the population (30.7%), followed by alleles *16 (10.8%), *20 (8.7%) and *18 (2.4%). These results suggest that BoLA-DRB3.2 alleles could be used to help in the selection of animals resistant to tick infestation. However, further studies involving a larger population of cattle in combination with other BoLA genes may help to understand the mechanisms of resistance to parasites.

DGAT1 K232A polymorphism in Brazilian cattle breeds

Recent reports identified DGAT1 (EC 2.3.1.20) harboring a lysine to alanine substitution (K232A) as a candidate gene with a strong effect on milk production traits. Our objective was to estimate the frequency of the DGAT1 K232A polymorphism in the main Zebu and Taurine breeds in Brazil as well as in Zebu x Taurine crossbreds as a potential QTL for marker-assisted selection. Samples of 331 animals from the main Brazilian breeds, Nellore, Guzerat, Red Sindhi, Gyr, Holstein, and Gyr x Holstein F1 were genotyped for DGAT1 K232A polymorphism (A and K alleles) using the PCR-RFLP technique. The highest frequency of the A allele was found in the Holstein sample (73%) followed by Gyr x Holstein F1 (39%). Gyr and Red Sindhi showed low frequencies of A alleles (4 and 2.5%, respectively). The A allele was not found in the Nellore and Guzerat samples. Our results could be used to guide association studies between this locus and milk traits in these breeds.

Association of BoLA-DRB3.2 alleles with tick (Boophilus microplus) resistance in cattle

Losses caused by bovine tick burdens in tropical countries have a tremendous economic impact on production systems. Besides reducing production, this parasite can cause death in the most susceptible animals. The use of commercial acaricides has been the major method of control, but their misuse has led to tick resistance to many chemicals. More recently, vaccines have been used in some countries without solving the problem completely. An alternative could be the development of resistant animals and the use of genetic markers and candidate genes that could help with the enormous task of selecting resistant animals. The bovine lymphocyte antigen genes (BoLA) have been shown to be associated with some parasitic infestations and disease incidence. Thus, the objective of the present study was to determine the association of BoLA-DRB3.2 alleles with tick resistance in cattle. The study was conducted on 231 F2 (Gyr x Holstein) animals that were artificially infested with 10,000 tick larvae. Log of tick count +1 was used as the dependent variable in a mixed animal model with allele substitution effects in addition to fixed effects of year and season at tick count, sex of calves, age of animal at tick count, hair type (short-straight, short-curl, long-straight, and long-curl), coat color (white, >75% white, 50- 75% white, and 25-50% white), and additive genetic, permanent environmental and residual effects as random. Females showed fewer ticks than males. Animals with short-straight hair were more resistant to tick infestation than animals with long-curl hair, and animals with whiter coat color also had fewer ticks. An association between BoLA alleles and lower tick number was found for alleles DRB3.2 *18, *20 and *27 at the 5% significance level. Also, one allele (DRB3.2*16) showed an association at the 10% level. Allele *27 was the most frequent in the population (30.7%), followed by alleles *16 (10.8%), *20 (8.7%) and *18 (2.4%)...

Associação do loco BoLA-DRB3.2 com produção de leite em bovinos da raça Gir / Association of BoLA-DRB3.2 locus with bovine milk production in Gir breed

A associação entre os alelos do loco BoLA-DRB3.2, identificados pela técnica de PCR-RFLP, e a produção de leite na raça Gir foi estudada por meio da análise de dados moleculares e fenotípicos de 424 vacas Gir, utilizando um modelo misto, sob modelo animal. Os dados moleculares consistiam dos genótipos dos animais para os alelos do loco BoLA-DRB3.2 e os dados fenotípicos eram referentes à produção de leite em até 305 dias de lactação. O loco é altamente polimórfico nesta raça, sendo identificados sete alelos (BoLA-DRB3.2*4, *8, *11, *19, *28, *41 e *48) que não haviam sido encontrados em animais zebuínos. Dois alelos (*16 e *29) estavam significativamente associados com maiores produções de leite, sugerindo que o próprio loco BoLA-DRB3.2 ou um QTL a ele ligado influencia a produção de leite de vacas Gir.

Frecuencia e incidencia de la tromboembolia venosa en un hospital general / Frequency and incidence of venous thromboembolism in a general hospital

El objetivo de este estudo fue determinar la frecuencia y la incidencia de la tromboembolia venosa (TEV), objetivamente diagnosticada, en un hospital universitario argentino. Se utilizó un diseño retrospectivo, obsevacional y longitudinal. Se analizaran las historias clínicas de todos los pacientes mayores de 16 años que habítan egresado o fallecido en las unidades de internación clínica, obstétrica y quirúrgica del Hospital de Clínicas José de San Martin con el diagnóstico de TEV durante un período de 24 meses. La frecuencia y laincidencia de TEV fueron 0.92% y 0.40% ( intervalo de confianza de 95% (IC 95%) : 0.37 a 0.42%) respectivamente. La incidencia más alta de TEV se presentó en la novena década de la vida ( 0.80%; IC 95%: 0.78% a ).82% ). Solamente el 31% de los pacientes que desarrollaron TEV durante la interación habían recebido tromboprofilaxis con heparina. La mortalidad intra hospitalaria global de los pacientes con TEV fue 19%.

Frecuencia e incidencia de la tromboembolia venosa en un hospital general / Frequency and incidence of venous thromboembolism in a general hospital

El objetivo de este estudo fue determinar la frecuencia y la incidencia de la tromboembolia venosa (TEV), objetivamente diagnosticada, en un hospital universitario argentino. Se utilizó un diseño retrospectivo, obsevacional y longitudinal. Se analizaran las historias clínicas de todos los pacientes mayores de 16 años que habítan egresado o fallecido en las unidades de internación clínica, obstétrica y quirúrgica del Hospital de Clínicas José de San Martin con el diagnóstico de TEV durante un período de 24 meses. La frecuencia y laincidencia de TEV fueron 0.92% y 0.40% ( intervalo de confianza de 95% (IC 95%) : 0.37 a 0.42%) respectivamente. La incidencia más alta de TEV se presentó en la novena década de la vida ( 0.80%; IC 95%: 0.78% a ).82% ). Solamente el 31% de los pacientes que desarrollaron TEV durante la interación habían recebido tromboprofilaxis con heparina. La mortalidad intra hospitalaria global de los pacientes con TEV fue 19%. (AU)

Use of lysis and recycle to control excess sludge production in activated sludge treatment: bench scale study and effect of chlorinated organic compounds.

The most widely used treatment system in the pulp and paper industry--the activated sludge--produces high quantities of sludge which need proper disposal. In this paper a modified activated sludge process is presented. A synthetic wastewater, prepared to simulate the effluent of bleached and unbleached pulp and paper plant wastewater, was submitted to treatment in a bench scale aerobic reactor. The excess sludge was lysed in a mechanical mill--Kaddy mill--and totally recycled to the aeration tank. In the first phase the synthetic wastewater, without the chlorinated compounds, was fed to the reactor. In the second phase increasing dosages of the chlorinated compounds were used. Total recycle of excess sludge after disintegration did not produce adverse effects. During the first phase average COD removal efficiency was 65% for the control unit, which operated in a conventional way, and 63% for the treatment unit, which operated with total recycle. During the second phase the COD removal efficiency increased to 77% in the control unit and 75% in the treatment unit. Chlorinated organics removal was 85% in the treatment unit and 86% for the control unit. These differences are not significant.

[Fighting Nazis and mosquitoes: US military men in Northeastern Brazil (1941-1945)]. / Combatendo nazistas e mosquitos: militares norte-americanos no Nordeste brasileiro (1941-1945).

Malaria-control policies enforced at US military bases set up in Brazil during World War II serve as an example in this analysis of the associations between disease and war. Case studies of the three main US bases (located in Belém, Recife and Natal) show how malaria can be transformed into a matter of political-military security. An examination of the Natal case allows the reader to perceive the prejudices, political mistrust, and nationalistic tensions marking relations between the Brazilians and Americans.

[Intelligent quotient of obese children and adolescents by the Weschler scale]. / Quociente de inteligência de crianças e adolescentes obesos através da escala Wechsler.

The intellectual characteristics of 65 obese children and adolescents (weight for height > or = 140%), aged 8 to 13 years and 11 months, were compared to those of 35 eutrophic children and adolescents (weight for height between 90 and 110%; and stature for age > 95%) of the same age group, utilizing the Wechsler Intelligence Scale for Children--WISC. Children and adolescents of the two groups were paired according to age groups, schooling level and socioeconomic condition. The obese group was composed of new patients assisted at the Department of Pediatrics of the Federal University of S. Paulo (Escola Paulista de Medicina), Brazil. The control group was made up of children from public primary schools, from the same geographical area as those studied. The eutrophic group presented significantly better performance in the intelligence test (Intelligence Quotient--IQ) than the obese group (average IQ--91 x 85; p < 0.05). Eutrophic children and adolescents revealed a wider range of interests, better capacity for social adaptability as well as greater speed and dexterity. Although weak, there was a positive correlation between income level, weight/stature relation (W/S) and IQ. There was no correlation between IQ and level of schooling. The eutrophic boys from higher income levels showed better perceptual and spacial organizing ability and a wider range of interests than those from the lower income groups. In spite of the fact that all the average IQ results presented consistently favored the eutrophic in relation to the obese, it is not possible to confirm one group's superiority over the other, due to the wide range of intervenient factors involved in the intelligence process.

Estudo Psicológico de crianças e adolescentes obesos / Psychological study of the obesity childrens and adolescents

O presente estudo oferece uma compreensäo dos aspectos psicogênicos e psicodinâmicos do processo evolutivo da obesidade por excesso de ingestäo calórica e propöe uma avaliaçäo psicodiagnóstica participativa e mobilizadora para o tratamento necessário.O estudo baseou-se nas avaliaçöes de 134 casos atendidos no Ambulatório Multiprofissional de Obesidade Infantil da EPM, em 1992/93...

[Nutritional, psychological and social aspects of mothers of malnourished children]. / Aspectos nutricionais, psicológicos e sociais de mães de crianças desnutridas.

Mothers of malnourished children were evaluated by psychologist, nutritionist, social worker and pediatrician with the objective of verifying in which ways the psychological, social and nutritional aspects interact. All mothers were from the low socioeconomic level, with extremely low family incomes, lower school levels were predominant,with 57.6% up to 4 years of formal education; 27.3% of the mothers were single, 48.5% single with male partners, 18.2% married and 6% separated. Main personality traits found: immaturity, difficulties in relationships, low self-regard, feelings of insufficiency/inferiority, aggressiveness. The intellectual level was average or below average in 82.6%. Concerning food preparation,we observed that 80% were disorganized and showed poor hygiene, 64% did not show interest, 77% wasted foodstuffs, 61.9% were insecure in handling foods and 37% prepared foods with inadequate aspect and consistency. Results confirm that social aspects effectively are a risk factor for malnutrition in families from the low socioeconomic level. Other aspects are also very relevant, since certain characteristics of the mothers personality disturb her performance and determine external disorder and absence of interest during preparation of meals, an activity directly related to child care.