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Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations
No full textAbstract\ud
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Background\ud
Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is typically characterized by neonatal galactose intolerance, with complications ranging from neonatal jaundice and liver failure to late complications, such as motor and reproductive dysfunctions. Galactosemia is also heterogeneous from a molecular standpoint, with hundreds of different mutations described in the GALT gene, some of them specific to certain populations, reflecting consequence of founder effect.\ud
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Methods\ud
This study reviews the main clinical findings and depicts the spectrum of mutations identified in 19 patients with CG, six with Duarte Galactosemia and one with type 2 Galactosemia in Brazil. Some individuals were diagnosed through expanded newborn screening test, which is not available routinely to all newborns.\ud
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Results\ud
The main classical Galactosemia mutations reported to date were identified in this study, as well as the Duarte variant and seven novel mutations - c.2 T > C (p.M1T), c.97C > A (p.R33S), c.217C > T (p.P73S), c.328 + 1G > A (IVS3 + 1G > A), c.377 + 4A > C (IVS4 + 4A > C), c.287_289delACA (p.N97del) and c.506A > C (p.Q169P). This was expected, given the high miscegenation of the Brazilian population.\ud
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Conclusions\ud
This study expands the mutation spectrum in GALT gene and reinforces the importance of early diagnosis and introduction of dietary treatment, what is possible with the introduction of Galactosemia in neonatal screening programs.This work was supported by The National Council for Scientific and\ud
Technological Development (CNPq) grant #146750/2010-1; Center for\ud
Integrative System Biology - CISBi-NAP/USP #12.1.25441.01.2, and Center for\ud
Medical Genomics at the General Hospital of the Ribeirão Preto Medical\ud
School, University of São Paulo, Brazil
A case of conventional treatment failure in visceral leishmaniasis: leukocyte distribution and cytokine expression in splenic compartments
No full textAbstract
Background
In this paper we study the distribution of leukocyte populations and of cytokine-producing cells in the spleen of a patient with visceral leishmaniasis resistant to clinical treatment. It is the first attempt to compare the distribution of leukocyte populations and cytokine-producing cells in the splenic compartments of a patient with visceral leishmaniasis with those observed in patients without the disease.
Case presentation
A 25-year-old male, farmer, was hospitalized on several occasions with diagnosis of visceral leishmaniasis and received all recommended treatments for the disease with only transient improvement followed by relapse. He was eventually subjected to splenectomy in order to control the effects of hypersplenism and to potentially overcome infection. After surgery and combined chemotherapy, the disease evolved to cure. In comparison with the spleens of the other two patients without visceral leishmaniasis, an increase was observed in the CD4/CD8 ratio and in the number of IL-10- and FoxP3-producing cells, while the number of IL-17-producing cells was lower in the spleen of the patient with visceral leishmaniasis.
Conclusion
This report confirms previous data on changes in the CD4/CD8 ratio in the spleens of patients with visceral leishmaniasis. Additionally the data presented herein suggests that splenic FoxP3- and IL-17-producing cells are involved in the chronicity of visceral leishmaniasis
Removal from the plasma of the free and esterified forms of cholesterol and transfer of lipids to HDL in type 2 diabetes mellitus patients
No full textAbstract
Background
The aim was to investigate new markers for type 2 diabetes (T2DM) dyslipidemia related with LDL and HDL metabolism. Removal from plasma of free and esterified cholesterol transported in LDL and the transfer of lipids to HDL are important aspects of the lipoprotein intravascular metabolism. The plasma kinetics (fractional clearance rate, FCR) and transfers of lipids to HDL were explored in T2DM patients and controls, using as tool a nanoemulsion that mimics LDL lipid structure (LDE).
Results
14C- cholesteryl ester FCR of the nanoemulsion was greater in T2DM than in controls (0.07 ± 0.02 vs. 0.05 ± 0.01 h-1, p = 0.02) indicating that LDE was removed faster, but FCR 3 H- cholesterol was equal in both groups. Esterification rates of LDE free-cholesterol were equal. Cholesteryl ester and triglyceride transfer from LDE to HDL was greater in T2DM (4.2 ± 0.8 vs. 3.5 ± 0.7%, p = 0.03 and 6.8 ± 1.6% vs. 5.0 ± 1.1, p = 0.03, respectively). Phospholipid and free cholesterol transfers were not different.
Conclusions
The kinetics of free and esterified cholesterol tended to be independent in T2DM patients and the lipid transfers to HDL were also disturbed. These novel findings may be related with pathophysiological mechanisms of diabetic macrovascular disease
A Dilatometric Study of the Influence of Residual Iron Content on the Annealing Behavior \ud of Cartridge Brass
No full textSolid solutions alloys may have their annealing behavior affected by solute concentration. Mathematical models assume complex equations with parameters of hard and tedious assessment making empirical tests rather necessary. This work evaluated the residual iron content (from ~100 ppm to ~600 ppm) influence on annealing of a cartridge brass. Dilatometry results showed an anomaly expansion peak on the onset of recrystallization. However, at the end of the annealing process the samples underwent a contraction of 4.68-7.51x10-4, comparable with literature. The residual iron content had no influence on recrystallization behavior of the samples, although solute drag effect clearly slowed down grain growth at 600 ppm Fe concentration, especially when annealing happens up to 500ºC. The dilatometric variations between the samples and the anomaly expansion peak during recrystallization were considered as resulting from grain growth of recrystallized nanosized grains and/or from second phase transformations. New tests are proposed to elucidate the phenomena behind observation
Functional and evolutionary analyses of the miR156 and miR529 families in land plants
No full textAbstract
Background
MicroRNAs (miRNAs) are important regulatory elements of gene expression. Similarly to coding genes, miRNA genes follow a birth and death pattern of evolution likely reflecting functional relevance and divergence. For instance, miRNA529 is evolutionarily related to miRNA156 (a highly conserved miRNA in land plants), but it is lost in Arabidopsis thaliana. Interestingly, both miRNAs target sequences overlap in some members of the SQUAMOSA promoter-binding protein like (SPL) family, raising important questions regarding the diversification of the miR156/miR529-associated regulatory network in land plants.
Results
In this study, through phylogenic reconstruction of miR156/529 target sequences from several taxonomic groups, we have found that specific eudicot SPLs, despite miRNA529 loss, retained the corresponding target site. Detailed molecular evolutionary analyses of miR156/miR529-target sequence showed that loss of miR529 in core eudicots, such as Arabidopsis, is correlated with a more relaxed selection of the miRNA529 specific target element, while miRNA156-specific target sequence is under stronger selection, indicating that these two target sites might be under distinct evolutionary constraints. Importantly, over-expression in Arabidopsis of MIR529 precursor from a monocot, but not from a basal eudicot, demonstrates specific miR529 regulation of AtSPL9 and AtSPL15 genes, which contain conserved responsive elements for both miR156 and miR529.
Conclusions
Our results suggest loss of functionality of MIR529 genes in the evolutionary history of eudicots and show that the miR529-responsive element present in some eudicot SPLs is still functional. Our data support the notion that particular miRNA156 family members might have compensated for the loss of miR529 regulation in eudicot species, which concomitantly may have favored diversification of eudicot SPLs
Oral cleft prevention program (OCPP)
No full textAbstract
Background
Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted.
Methods/design
This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P) randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg) to that of a historical control group.
The study has been approved by IRBs (ethics committees) of all involved sites. Results will be disseminated through publications and presentations at scientific meetings.
Discussion
The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for huge savings in not only money but the overall quality of life. This may help establish more specific clinical guidelines for oral cleft prevention so that the intervention can be better tailored for at-risk women.
ClinicalTrials.gov Identifier
NCT0039791
Characterization of sugarcane (Saccharum spp.) leaf senescence: implications for biofuel production
No full textAbstract\ud
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Background\ud
Second-generation ethanol (2G-bioethanol) uses lignocellulosic feedstocks for ethanol production. Sugarcane is one among the most suitable crops for biofuel production. Its juice is extracted for sugar production, while sugarcane bagasse, straw, and senescing leaves are considered industrial waste. Senescence is the age-dependent deterioration of plant cells, ultimately leading to cell death and completion of the plant life cycle. Because senescing leaves may also be used for biofuel production, understanding the process of natural senescence, including remobilization of nutrients and its effect on cell walls can provide useful information for 2G-bioethanol production from sugarcane leaves.\ud
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Results\ud
The natural senescence process in leaves of the commercial sugarcane cultivar RB867515 was investigated. Senescence was characterized by strong reduction in photosynthetic pigments content, remobilization of the nutrients N, P, K, B, Cu, Fe, and Zn, and accumulation of Ca, S, Mg, B, Mn, and Al. No significant changes in the cell-wall composition occurred, and only small changes in the expression of cell wall-related genes were observed, suggesting that cell walls are preserved during senescence. Senescence-marker genes, such as SAG12-like and XET-like genes, were also identified in sugarcane and found to be highly expressed.\ud
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Conclusions\ud
Our study on nutrient remobilization under senescence in a vigorous sugarcane cultivar can contribute to the understanding on how nutrient balance in a high-yielding crop is achieved. In general, neutral monosaccharide profile did not change significantly with leaf senescence, suggesting that senescing leaves of sugarcane can be as a feedstock for biofuel production using pretreatments established for non-senescing leaves without additional efforts. Based on our findings, the potential biotechnological applications for the improvement of sugarcane cultivars are discussed.This work was supported by the National Center for Research on Agroenergy\ud
(CNPAE), the Brazilian Agricultural Research Corporation (EMBRAPA), and the\ud
National Council for Scientific and Technological Development (CNPq). This\ud
work is part of the activities of the National Institute of Science and Technol‑\ud
ogy of Bioethanol (http://www.inctdobioetanol.com.br). The authors thank\ud
the São Paulo Research Foundation (FAPESP) for financial support
Fertility rates among very young adolescent women: temporal and spatial trends in Brazil
No full textAbstract
Background
We assessed whether the reported decrease in fertility rates among 15 to 19 years old Brazilian adolescents has met with a parallel decrease in very young adolescent (10 to 14 years old) fertility rates. So we explored temporal trends for fertility rates among very young adolescents between 2000 and 2012 for Brazil as a whole, its regions and states; and also analyzed the spatial distribution of fertility rates among Brazilian municipalities in the years 2000 and 2012.
Methods
We used data from the Information System on Live Births to calculate the rates. To examine the temporal trends, we used linear regression for time series with Prais-Winsten estimation, including the annual percentage change, for the country, regions, and states. To analyze the spatial distribution among Brazilian municipalities, we calculated the Global Moran Index and created a local Moran significance and cluster map through Local Indicators of Spatial Association (LISA). We also elaborated a thematic map with the rates using empirical Bayesian estimation.
Results
Brazilian very young adolescent fertility rates remained high and stable throughout the 2000 to 2012 period, and significantly decreased in three out of 26 states, and in the federal district. On the other hand, an increase was observed in two Northern and Northeastern states. The rates were spatially dependent in Brazilian municipalities (Moran Index = 0.22 in 2012; p = 0.05). The maps indicated a heterogeneous distribution of the rates, with high-rate clusters predominant in the North and low-rate clusters predominant in the South, Southeast, and Midwest.
Conclusions
Our findings indicate that Brazilian very young adolescent fertility rates have not decreased in parallel with adolescent fertility rates as they remain high and did not decrease from 2000 and 2012, even though a few states presented a decrease. Thus, these phenomena probably have distinct underlying causes that warrant further elucidation. Progress in this field is crucial for the development of specific policies and programs focused on very young adolescents
Impact of weight loss diet associated with flaxseed on inflammatory markers in men with cardiovascular risk factors: a clinical study
No full textAbstract
Background
Flaxseed has received attention for its anti-inflammatory and antioxidant role. The present study hypothesizes if flaxseed added to a weight loss diet could improve the lipid and metabolic profiles and decrease risk factors related to cardiovascular disease.
Methods
In a prospective, single blinded 42 days protocol, subjects were allocated into two groups with low carbohydrates intake: GriceLC (35% of carbohydrate and 60g of raw rice powder per day) and GflaxLC (32% of carbohydrate and 60g of flaxseed powder per day). Blood pressure, anthropometric measures and serum levels of isoprostane, C-reactive protein, Tumor Necrosis Factor-alpha, glucose, lipidic profile, uric acid, adiponectin, leptin and insulin were measured at baseline and at the end of interventions. Serum and urinary enterodiol and enterolactione were also measured.
Results
A total of 27 men with cardiovascular risk factors were evaluated, with mean age of 33 ± 10 years to GriceLC and 40 ± 9 years to GflaxLC. Both groups experienced weight loss and systolic blood pressure reduction. A decrease in inflammatory markers (CRP and TNF-α) was observed after flaxseed intake (mean decrease of 25% and 46% for GflaxLC respectively). All groups also showed improvement in levels of total cholesterol, LDL-c, uric acid and adiponectin. Only GflaxLC group showed a decrease in triglyceride levels.
Conclusion
This study suggests that flaxseed added to a weight loss diet could be an important nutritional strategy to reduce inflammation markers such as CRP and TNF-α.
Trial registration
ClinicalTrials.gov
NCT02132728
Rickettsia vini n. sp. (Rickettsiaceae) infecting the tick Ixodes arboricola (Acari: Ixodidae)
No full textAbstract\ud
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Background\ud
Recently, a new rickettsia named ‘Candidatus Rickettsia vini’ belonging to the spotted fever group has been molecularly detected in Ixodes arboricola ticks in Spain, the Czech Republic, Slovakia and Turkey, with prevalence reaching up to 100 %. The aim of this study was to isolate this rickettsia in pure culture, and to describe it as a new Rickettsia species.\ud
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Methods\ud
A total of 148 ornitophilic nidicolous ticks Ixodes arboricola were collected in a forest near Breclav (Czech Republic) and examined for rickettsiae. Shell vial technique was applied to isolate rickettsiae in Vero cells. Rickettsial isolation was confirmed by optical microscopy and sequencing of partial sequences of the rickettsial genes gltA, ompA, ompB, and htrA. Laboratory guinea pigs and chickens were used for experimental infestations and infections. Animal blood sera were tested by immunofluorescence assay employing crude antigens of various rickettsiae.\ud
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Results\ud
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Rickettsia vini n. sp. was successfully isolated from three males of I. arboricola. Phylogenetic analysis of fragments of 1092, 590, 800, and 497 nucleotides of the gltA, ompA, ompB, and htrA genes, respectively, showed closest proximity of R. vini n. sp. to Rickettsia japonica and Rickettsia heilongjiangensis belonging to the spotted fever group. Experimental infection of guinea pigs and chickens with R. vini led to various levels of cross-reactions of R. vini-homologous antibodies with Rickettsia rickettsii, Rickettsia parkeri, ‘Candidatus Rickettsia amblyommii’, Rickettsia rhipicephali, Rickettsia bellii, and Rickettsia felis. Laboratory infestations by R. vini-infected I. arboricola larvae on chickens led to no seroconversion to R. vini n. sp., nor cross-reactions with R. rickettsii, R. parkeri, ‘Ca. R. amblyommii’, R. rhipicephali, R. bellii or R. felis.\ud
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Conclusions\ud
Our results suggest that R. vini n. sp. is possibly a tick endosymbiont, not pathogenic for guinea pigs and chickens. Regarding specific phenotypic characters and significant differences of DNA sequences in comparison to the most closely related species (R. japonica and R. heilongjiangensis), we propose to classify the isolate as a new species, Rickettsia vini.Marketa Novakova and Ivan Literak were supported by project CEITEC 2020\ud
(LQ1601) from the Czech Ministry of Education, Youth and Sports within the\ud
National Programme for Sustainability II. Marcelo B. Labruna was supported\ud
by the “Coordenação de Aperfeiçoamento de Pessoal de Nível Superior”\ud
(CAPES, Brazil). The funders had no role in study design, data collection and\ud
interpretation, or the decision to submit the work for publication