RESUMO

Background: The chromosome 1p32p31 deletion syndrome is a contiguous gene disorder with a variable phenotype characterized by brain malformations with or without urinary tract defects, besides neurodevelopmental delay and dysmorphisms. An expanded phenotype was proposed based on additional findings, including one previous report of a patient presenting with moyamoya disease. Case Presentation: The authors report a patient presenting with early neurodevelopmental delay, hydrocephalus, renal malformation, and dysmorphisms. After presenting with a sudden choreic movement disorder, the neuroimaging investigation revealed an ischemic stroke, moyamoya disease, and bilateral incomplete hippocampal inversion. Chromosomal microarray analysis revealed a deletion of 13.2 Mb at 1p31.3p32.2, compatible with the contiguous gene syndrome caused by microdeletions of this region. Discussion/Conclusion: This is the second report of a patient who developed Moyamoya disease and the first to describe bilateral incomplete hippocampal inversion in this microdeletion syndrome.

RESUMO

Investment in soil phosphorus (P) capital in the tropics is often constrained by poor availability of mineral fertiliser to small-scale farmers. Consequently, new sustainable agricultural cropping strategies are required to maintain fertility and maximise crop yields. The co-application of Tithonia diversifolia (Tithonia) green manure and mineral fertiliser (KH2PO4) together (integrated nutrient management) in comparison to the addition of one or the other alone has been hypothesized to promote crop P uptake. The aim of this study was to critically evaluate the benefits of integrated nutrient management practices in laboratory experiments. Wheat was grown as a test crop in microcosms to which either 32P-labelled mineral fertiliser or 33P-labelled Tithonia was added either singly or in combination. Exclusion meshes were used to determine the role of arbuscular mycorrhizal (AM) fungi in P uptake from the different P sources. The rate of uptake of both 32P and 33P by mycorrhizas was similar, and the rate of mycorrhizal P capture was comparable to that of roots. Generally, there was little difference in wheat P acquisition under integrated nutrient management treatments in comparison to P acquisition from 32P-mineral fertiliser or the addition of 33P-Tithonia alone. Overall, Tithonia residues were not very effective in supplying P to wheat over a short time evaluation period, suggesting that mineral fertilisers will still be required to satisfy crop demand.

Assuntos

RESUMO

Investment in soil phosphorus (P) capital in the tropics is often constrained by poor availability of mineral fertiliser to small-scale farmers. Consequently, new sustainable agricultural cropping strategies are required to maintain fertility and maximise crop yields. The co-application of Tithonia diversifolia (Tithonia) green manure and mineral fertiliser (KH2PO4) together (integrated nutrient management) in comparison to the addition of one or the other alone has been hypothesized to promote crop P uptake. The aim of this study was to critically evaluate the benefits of integrated nutrient management practices in laboratory experiments. Wheat was grown as a test crop in microcosms to which either 32P-labelled mineral fertiliser or 33P-labelled Tithonia was added either singly or in combination. Exclusion meshes were used to determine the role of arbuscular mycorrhizal (AM) fungi in P uptake from the different P sources. The rate of uptake of both 32P and 33P by mycorrhizas was similar, and the rate of mycorrhizal P capture was comparable to that of roots. Generally, there was little difference in wheat P acquisition under integrated nutrient management treatments in comparison to P acquisition from 32P-mineral fertiliser or the addition of 33P-Tithonia alone. Overall, Tithonia residues were not very effective in supplying P to wheat over a short time evaluation period, suggesting that mineral fertilisers will still be required to satisfy crop demand.(AU)

Assuntos

RESUMO

Polyunsaturated fatty acids (PUFA) contained in fish oil (FO) are ligands for peroxisome proliferator-activated receptors (PPAR) that may induce changes in cardiometabolic markers. Variation in PPAR genes may influence the beneficial responses linked to FO supplementation in young adults. The study aimed to analyze the effect of FO supplementation on glucose metabolism, circulating lipids and inflammation according to PPARα L162V and PPARγ2 P12A genotypes in young Mexican adults. 191 young, non-smoking subjects between 18 and 40 years were included in a one-arm study. Participants were supplemented with 2.7 g/day of EPA+DHA, during six weeks. Dietary analysis, body composition measurements and indicators for glucose metabolism, circulating lipids, and markers for inflammation were analyzed before and after intervention. An overall decrease in triglycerides (TG) and an increase in HS-ω3 index were observed in all subjects [-4.1 mg/dL, (SD:±51.7), P=.02 and 2.6%, (SD:±1.2), P<.001 respectively]. Mean fasting insulin and glycated hemoglobin (HbA1c%) were significantly decreased in all subjects [-0.547mlU/L, (SD:±10.29), P=.034 and-0.07%, (SD:±0.3), P<.001 respectively], whereas there was no change in body composition, fasting glucose, adiponectin and inflammatory markers. Subjects carrying the minor alleles of PPARα L162V and PPARγ2 P12A had higher responses in reduction of TG and fasting insulin respectively. Interestingly, doses below 2.7 g/day (1.8 g/day) were sufficient to induce a significant reduction in fasting insulin and HbA1c% from baseline (P=.019 and P<.001). The observed responses in triglycerides and fasting insulin in the Mexican population give further evidence of the importance of FO supplementation in young people as an early step towards the prevention of cardiometabolic disease.

Assuntos

RESUMO

Phosphatidylinositol-4 kinase (PI-4K) is responsible for the generation of phosphatidylinositol-4 phosphate (PtdIns(4)P), a bioactive signaling molecule involved in several biological functions. In this study, we show that sphingosine modulates the activity of the PI-4K isoform associated with the basolateral membranes (BLM) from kidney proximal tubules. Immunoblotting with an anti-α subunit PI-4K polyclonal antibody revealed the presence of two bands of 57 and 62kDa in the BLM. BLM-PI-4K activity retains noteworthy biochemical properties; it is adenosine-sensitive, not altered by wortmanin, and significantly inhibited by Ca(2+) at the µM range. Together, these observations indicate the presence of a type II PI-4K. Endogenous phosphatidylinositol (PI) alone reaches PI-4K half-maximal activity, revealing that even slight modifications in PI levels at the membrane environment promote significant variations in BLM-associated-PI-4K activity. ATP-dependence assays suggested that the Mg.ATP(2-) complex is the true substrate of the enzyme and that free Mg(2+) is an essential cofactor. Another observation indicated that higher concentrations of free ATP are inhibitory. BLM-associated-PI-4K activity was ~3-fold stimulated in the presence of increasing concentration of sphingosine, while in concentrations higher than 0.4mM, in which S1P is pronouncedly formed, there was an inhibitory effect on PtdIns(4)P formation. We propose that a tightly coupled regulatory network involving phosphoinositides and sphingolipids participate in the regulation of key physiological processes in renal BLM carried out by PI-4K.

Assuntos

RESUMO

Tobacco smoke and air pollutants contain carcinogens, such as polycyclic aromatic hydrocarbons (PAHs) and tobacco specific nitrosamines (TSNA), that are substrates of metabolizing enzymes generating reactive metabolites that can bind to DNA. Variation in the activity of these enzymes may modify the extent to which these metabolites can interact with DNA. We compared the levels of bulky DNA adducts in blood leukocytes from 93 volunteers living in Mexico City with the presence of 13 single nucleotide polymorphisms (SNPs) in genes related to PAH and TSNA metabolism (AhR rs2044853, CYP1A1 rs1048943, CYP1A1 rs1048943, CYP1A1 rs1799814, EPHX1 rs1051740, EPHX1 rs2234922, GSTM1 null, GSTT1 null and GSTP1 rs947894), DNA repair (XRCC1 rs25487, ERCC2 rs13181 and MGMT rs12917) and cell cycle (TP53 rs1042522). (32)P-postlabeling analysis was used to quantify bulky DNA adduct formation. Genotyping was performed using PCR-RFLP. The mean levels of bulky DNA adducts were 8.51±3.66 adducts/10(8) nucleotides (nt) in smokers and 8.38±3.59 adducts/10(8) nt in non-smokers, being the difference not statistically significant. Without taking into account the smoking status, GSTM1 null individuals had a marginally significant lower adduct levels compared with GSTM1 volunteers (p=0.0433) and individuals heterozygous for MGMT Leu/Phe had a higher level of bulky adducts than those who were homozygous wild type (p=0.0170). A multiple regression analysis model showed a significant association between the GSTM1 (deletion) and MGMT rs12917 (Phe/Phe) haplotype and the formation of DNA adducts in smokers (R(2)=0.2401, p=0.0215). The presence of these variants conferred a greater risk for higher adduct levels in this Mexican population.

Assuntos

RESUMO

Phosphorus, despite its relatively low content in most crops is the most applied nutrient as mineral fertilizer and is an important fraction of the cost of agricultural production. Knowledge of the differences among plant varieties in relation to soil and fertilizer P uptake is fundamental for breeding improvement programs and management of phosphate fertilization. Differences in P uptake from soil and fertilizer (triple superphosphate), soil P availability through L and A values, and the physiologic, ecophysiologic and agronomic efficiencies of two commercial tomato (Lycopersicum esculentum Will) varieties, Santa Clara and Santa Cruz, were evaluated by the 32P technique. The experiment was carried out in a greenhouse, using two soils, a dystrophic Dark Red Latosol and an eutrophic Red Yellow Latosol, and two P fertilizer application rates (0 and 31.1 mg kg-1). Plant responses were markedly different in the two different soils. There was a clear increase in dry matter production, L value, and P uptake from the soil due to fertilizer application, but not in the A values. Differences in dry matter production, P concentration and physiologic, ecophysiologic and agronomic efficiency between varieties differed more for the eutrophic Red Yellow Latosol. There was no difference between the two varieties in relation to the uptake of soil and fertilizer P, L and A values.

O fósforo, embora seja o macronutriente em menor concentração na maioria das culturas, é o mais aplicado como fertilizante mineral, constituindo uma parcela significativa do custo de produção agrícola. O conhecimento das diferenças entre variedades de plantas em relação à absorção do fósforo do solo e do fertilizante torna-se de grande importância para programas de melhoramento e manejo da adubação fosfatada. Utilizando a técnica do traçador radioativo 32P, foram avaliadas as diferenças na absorção de fósforo proveniente do solo e do fertilizante (superfosfato triplo), na disponibilidade de P do solo pelos valores L e A e nas eficiências fisiológica, ecofisiológica e agronômica do nutriente pelas variedades comerciais de tomate (Licopersicum esculentum Will) Santa Clara e Santa Cruz. Conduziu-se um experimento em condições de casa de vegetação com dois solos (Latossolo Vermelho distrófico e Latossolo Vermelho-Amarelo eutrófico) e dois níveis de P (0 e 31,1 mg kg-1). A resposta das plantas foi diferente nos dois solos e em concordância com suas características. Houve aumentos significativos, em ambos os solos, na produção de matéria seca, no valor L e na absorção de P do solo devido à aplicação do fertilizante mineral, mas não no valor A. Diferenças entre variedades quanto à produção de matéria seca, concentração de fósforo, eficiência fisiológica, ecofisiológica e agronômica foram mais marcadas no solo Latossolo Vermelho-Amarelo eutrófico. Não houve diferenças entre as variedades na absorção de P do solo e do fertilizante, valores L e A.

RESUMO

Phosphorus, despite its relatively low content in most crops is the most applied nutrient as mineral fertilizer and is an important fraction of the cost of agricultural production. Knowledge of the differences among plant varieties in relation to soil and fertilizer P uptake is fundamental for breeding improvement programs and management of phosphate fertilization. Differences in P uptake from soil and fertilizer (triple superphosphate), soil P availability through L and A values, and the physiologic, ecophysiologic and agronomic efficiencies of two commercial tomato (Lycopersicum esculentum Will) varieties, Santa Clara and Santa Cruz, were evaluated by the 32P technique. The experiment was carried out in a greenhouse, using two soils, a dystrophic Dark Red Latosol and an eutrophic Red Yellow Latosol, and two P fertilizer application rates (0 and 31.1 mg kg-1). Plant responses were markedly different in the two different soils. There was a clear increase in dry matter production, L value, and P uptake from the soil due to fertilizer application, but not in the A values. Differences in dry matter production, P concentration and physiologic, ecophysiologic and agronomic efficiency between varieties differed more for the eutrophic Red Yellow Latosol. There was no difference between the two varieties in relation to the uptake of soil and fertilizer P, L and A values.

O fósforo, embora seja o macronutriente em menor concentração na maioria das culturas, é o mais aplicado como fertilizante mineral, constituindo uma parcela significativa do custo de produção agrícola. O conhecimento das diferenças entre variedades de plantas em relação à absorção do fósforo do solo e do fertilizante torna-se de grande importância para programas de melhoramento e manejo da adubação fosfatada. Utilizando a técnica do traçador radioativo 32P, foram avaliadas as diferenças na absorção de fósforo proveniente do solo e do fertilizante (superfosfato triplo), na disponibilidade de P do solo pelos valores L e A e nas eficiências fisiológica, ecofisiológica e agronômica do nutriente pelas variedades comerciais de tomate (Licopersicum esculentum Will) Santa Clara e Santa Cruz. Conduziu-se um experimento em condições de casa de vegetação com dois solos (Latossolo Vermelho distrófico e Latossolo Vermelho-Amarelo eutrófico) e dois níveis de P (0 e 31,1 mg kg-1). A resposta das plantas foi diferente nos dois solos e em concordância com suas características. Houve aumentos significativos, em ambos os solos, na produção de matéria seca, no valor L e na absorção de P do solo devido à aplicação do fertilizante mineral, mas não no valor A. Diferenças entre variedades quanto à produção de matéria seca, concentração de fósforo, eficiência fisiológica, ecofisiológica e agronômica foram mais marcadas no solo Latossolo Vermelho-Amarelo eutrófico. Não houve diferenças entre as variedades na absorção de P do solo e do fertilizante, valores L e A.

RESUMO

To evaluate the effect of phosphorus supplementation on 32P uptake by red blood cells in vitro as diagnosis of subclinical P deficiency, twelve calves averaging 191 kg were separated from the herd for 12 weeks. During the first 6 weeks, the animals were maintained on a pasture without phosphorus supplementation. During the next 6-week period, the animals were supplemented with a commercial mineral salt with 6.0% total P. Four ml of freshly drawn whole blood were obtained at 2-week intervals and incubated with 1.85 MBq 32P. After incubation at 38°C for a 3-hour period, the cells were separated from the plasma and washed three times with an isotonic saline solution and their radioactivity was determined through the Cerenkov effect. Effects of treatment upon the levels of P blood plasma, blood glucose and P excretion were also investigated and these parameters increased significantly with P supplementation. The average rates of 32P uptake by the erythrocytes were 7.04 ± 1.20 and 5.91 ± 1.24% (P 0,05), for treatments without and with P supplementation, respectively. The method showed to be suitable as an additional parameter to estimate the P status in ruminants.

Com o objetivo de avaliar o efeito da suplementação de P sobre a incorporação de 32P pelos eritrócitos de bovinos como método para diagnóstico da deficiência subclínica desse mineral, doze bezerros mestiços pesando em média 191 kg foram separados do rebanho por 12 semanas. Durante as 6 primeiras semanas os animais consumiram apenas a pastagem, sem receber suplementação mineral. Após esse período, os animais foram suplementados com uma mistura mineral comercial contendo 6,0% P por mais 6 semanas, permanecendo na mesma pastagem. Amostras de sangue foram coletadas a cada 2 semanas. Quatro ml de sangue total foram incubados a 38°C com 1,85 MBq de 32P por 3 horas. As células foram separadas do plasma por centrifugação e lavadas com solução salina por 3 vezes. A radioatividade nas células foi detectada através do efeito Cerenkov. Os efeitos dos tratamentos foram também investigados sobre os níveis de P e glucose no plasma e P nas fezes. Houve aumento significativo nesses parâmetros à medida em que os animais foram suplementados. As taxas de incorporação de 32P pelos eritrócitos tiveram valores médios de 7,04 ± 1,20 e 5,91 ± 1,24% (P 0,05), para as fases sem e com suplementação de P, respectivamente. O método mostrou ser promissor como um parâmetro adicional na avaliação do estado nutricional de P em ruminantes.

RESUMO

To evaluate the effect of phosphorus supplementation on 32P uptake by red blood cells in vitro as diagnosis of subclinical P deficiency, twelve calves averaging 191 kg were separated from the herd for 12 weeks. During the first 6 weeks, the animals were maintained on a pasture without phosphorus supplementation. During the next 6-week period, the animals were supplemented with a commercial mineral salt with 6.0% total P. Four ml of freshly drawn whole blood were obtained at 2-week intervals and incubated with 1.85 MBq 32P. After incubation at 38°C for a 3-hour period, the cells were separated from the plasma and washed three times with an isotonic saline solution and their radioactivity was determined through the Cerenkov effect. Effects of treatment upon the levels of P blood plasma, blood glucose and P excretion were also investigated and these parameters increased significantly with P supplementation. The average rates of 32P uptake by the erythrocytes were 7.04 ± 1.20 and 5.91 ± 1.24% (P 0,05), for treatments without and with P supplementation, respectively. The method showed to be suitable as an additional parameter to estimate the P status in ruminants.

Com o objetivo de avaliar o efeito da suplementação de P sobre a incorporação de 32P pelos eritrócitos de bovinos como método para diagnóstico da deficiência subclínica desse mineral, doze bezerros mestiços pesando em média 191 kg foram separados do rebanho por 12 semanas. Durante as 6 primeiras semanas os animais consumiram apenas a pastagem, sem receber suplementação mineral. Após esse período, os animais foram suplementados com uma mistura mineral comercial contendo 6,0% P por mais 6 semanas, permanecendo na mesma pastagem. Amostras de sangue foram coletadas a cada 2 semanas. Quatro ml de sangue total foram incubados a 38°C com 1,85 MBq de 32P por 3 horas. As células foram separadas do plasma por centrifugação e lavadas com solução salina por 3 vezes. A radioatividade nas células foi detectada através do efeito Cerenkov. Os efeitos dos tratamentos foram também investigados sobre os níveis de P e glucose no plasma e P nas fezes. Houve aumento significativo nesses parâmetros à medida em que os animais foram suplementados. As taxas de incorporação de 32P pelos eritrócitos tiveram valores médios de 7,04 ± 1,20 e 5,91 ± 1,24% (P 0,05), para as fases sem e com suplementação de P, respectivamente. O método mostrou ser promissor como um parâmetro adicional na avaliação do estado nutricional de P em ruminantes.

RESUMO

Rice and bean plants were grown in nutrient solution in the presence of three levels of N, P and K. The method of the bioevaluation of the nutricional status, in which excised roots are allowed to take up tagged elements, in this case 15N and 32P, was compared with foliar analysis. Two main conclusions were drawn: 1) the bioevaluation proved to be an useful and rapid procedure for the diagnosis of the nutricional status of both species, since there was a significant negative correlation between absorption of N and P and dry matter yield; 2) the uptake of the tagged ions with either element by the roots of plants grown under deficient levels of N and P in the nutrient solution was inversely proportional to the leaf concentration of both nutrients.

Arroz e feijão foram cultivados em soluções nutritivas em presença de três níveis de N, P e K. O método da bioavaliação do estado nutricional em que raízes destacadas absorvem elementos marcados, no caso presente 15N e 32P, foi comparado com o de diagnose foliar. Foram tiradas duas conclusões principais: 1) os bioensaios mostraram ser um procedimento rápido e útil para o diagnóstico do estado nutricional das duas espécies, visto haver correlação significativa negativa entre absorção e produção de matéria seca; 2) a absorção de dois isótopos pelas raízes da planta previamente submetida a níveis diferentes de N e de P na solução foi inversamente proporcional aos teores foliares desses elementos.

RESUMO

Rice and bean plants were grown in nutrient solution in the presence of three levels of N, P and K. The method of the bioevaluation of the nutricional status, in which excised roots are allowed to take up tagged elements, in this case 15N and 32P, was compared with foliar analysis. Two main conclusions were drawn: 1) the bioevaluation proved to be an useful and rapid procedure for the diagnosis of the nutricional status of both species, since there was a significant negative correlation between absorption of N and P and dry matter yield; 2) the uptake of the tagged ions with either element by the roots of plants grown under deficient levels of N and P in the nutrient solution was inversely proportional to the leaf concentration of both nutrients.

Arroz e feijão foram cultivados em soluções nutritivas em presença de três níveis de N, P e K. O método da bioavaliação do estado nutricional em que raízes destacadas absorvem elementos marcados, no caso presente 15N e 32P, foi comparado com o de diagnose foliar. Foram tiradas duas conclusões principais: 1) os bioensaios mostraram ser um procedimento rápido e útil para o diagnóstico do estado nutricional das duas espécies, visto haver correlação significativa negativa entre absorção e produção de matéria seca; 2) a absorção de dois isótopos pelas raízes da planta previamente submetida a níveis diferentes de N e de P na solução foi inversamente proporcional aos teores foliares desses elementos.