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In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts
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Sperb-Ludwig, Fernanda

; Ludwig, Nataniel Floriano

; Rizowy, Gustavo Mottin

; Velho, Renata Voltolini

; Schwartz, Ida Vanessa Doederlein

Genetics and Molecular Biology

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2023, Volume 46 Nº 3 elocation e20230117

Resumo: En | Texto: En | PDF: En

Abstract Mucolipidosis II and III (MLII and MLIII) are autosomal recessive diseases caused by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in GlcNAc-1-phosphotransferase. This enzyme adds mannose 6-phosphate residues to lysosomal hydrolases, which allows enzymes to enter lysosomes. Defective GlcNAc-1-phosphotransferase causes substrate accumulation and inflammation. These diseases have no treatment, and we hypothesized that the use of substrate reduction therapy and immunomodulation may be beneficial at the cell level and as a future therapeutic approach. Fibroblasts from two patients with MLIII alpha/beta and 2 patients with MLIII gamma as well as from one healthy control were treated with 10 µM miglustat, 20 µM genistein, and 20 µM thalidomide independently. ELISA assay and confocal immunofluorescence microscopy were used to evaluate the presence of heparan sulfate (HS) and the impact on substrate accumulation. ELISA assay showed HS reduction in all patients with the different treatments used (p=0.05). HS reduction was also observed by immunofluorescence microscopy. Our study produced encouraging results, since the reduction in substrate accumulation, even partial, may offer benefits to the phenotype of patients with inborn errors of metabolism.

https://doi.org/10.1590/1678-4685-gmb-2023-0117

Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs
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Silva, Gerda Cristal Villalba

; Borsatto, Taciane

; Schwartz, Ida Vanessa Doederlein

; Sperb-Ludwig, Fernanda

Genetics and Molecular Biology

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2022, Volume 45 Nº 1 elocation e20200432

Resumo: En | Texto: En | PDF: En

Abstract Reduced biotinidase activity is associated with a spectrum of deficiency ranging from total deficiency to heterozygous levels, a finding that is not always explained by the pathogenic variants observed in the BTD gene. The investigation of miRNAs, regulatory elements and variants in the 3’UTR region may present relevance in understanding the genotype-phenotype association. The aims of the study were to characterize the regulatory elements of the 3’UTR of the BTD gene and identify variants and miRNAs which may explain the discrepancies observed between genotype and biochemical phenotype. We evaluated 92 individuals with reduced biotinidase activity (level of heterozygotes = 33, borderline = 35, partial DB = 20 or total DB= 4) with previously determined BTD genotype. The 3’UTR of the BTD gene was Sanger sequenced. In silico analysis was performed to identify miRNAs and regulatory elements. No variants were found in the 3’UTR. We found 97 possible miRNAs associated with the BTD gene, 49 predicted miRNAs involved in the alanine, biotin, citrate and pyruvate metabolic pathways and 5 genes involved in biotin metabolism. Six AU-rich elements were found. Our data suggest variants in the 3'UTR of BTD do not explain the genotype-phenotype discrepancies found in Brazilian individuals with reduced biotinidase.

https://doi.org/10.1590/1678-4685-gmb-2020-0432

A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients
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Ludwig, Nataniel F

; Sperb-Ludwig, Fernanda

; Randon, Dévora N

; Bernardi, Pricila

; Giuliani, Liane R

; Moreno, Carolina A

; Cavalcanti, Denise P

; Silva, Luiz CS da

; Schwartz, Ida V D

Journal of Inborn Errors of Metabolism and Screening

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2021, Volume 9 elocation e20200029

Resumo: En | Texto: En | PDF: En

Abstract GlcNAc-1-phosphotransferase is a hexameric complex formed by subunits α, β, and γ, where the first two are encoded by the GNPTAB gene and the third by the GNPTG gene. Pathogenic variants identified in the GNPTAB gene cause the diseases Mucolipidosis II and III alpha/beta, which are severe and characterized by an overflow of lysosomal hydrolases into the extracellular environment, and their absence in lysosomal compartments causes an accumulation of non-degraded macromolecules. Methodology: a retrospective study that included 32 unrelated Brazilian patients with a clinical and genetic diagnosis of Mucolipidosis II/III alpha/beta. The regional frequency of the altered alleles was determined. Results: The patients were from all regions of Brazil. The most prevalent variants were c.3503_3504del, associated with the severe form of the disease, and c.1208T>C, associated with the milder form. Variant c.3503_3504del is the most frequently found in the Midwest, Northeast, and Southeast regions of Brazil. In the South, 42.8% of the alleles present the c.1196C>T variant. Conclusions: From the perspective of all patients diagnosed with Mucolipidosis II/III in Brazil, it is possible to conclude that different regions present allelic frequencies of specific pathogenic variants, which can be explained by the occurrence of a founding effect or high inbreeding rates.

https://doi.org/10.1590/2326-4594-jiems-2020-0029 225 downloads

The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant
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Pinheiro, Franciele Cabral

; Ligabue-Braun, Rodrigo

; Siqueira, Ana Cecília Menezes de

; Matuella, Camila

; Souza, Carolina Fischinger Moura de

; Monteiro, Fabíola Paoli

; Kok, Fernando

; Schwartz, Ida Vanessa Doederlein

; Sperb-Ludwig, Fernanda

Genetics and Molecular Biology

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2021, Volume 44 Nº 2 elocation e20200281

Resumo: En | Texto: En | PDF: En

Abstract Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inborn error of fructose metabolism caused by pathogenic variants in the FBP1 gene. As gluconeogenesis is affected, catabolic episodes can induce ketotic hypoglycemia in patients. FBP1 analysis is the most commonly used approach for the diagnosis of this disorder. Herein, a Brazilian patient is reported. The proband, a girl born to a consanguineous couple, presented with severe hypoglycemia crisis in the neonatal period. At the age 17 months, presented a new crisis accompanied by metabolic acidosis associated with a feverish episode. Genetic analysis was performed by next-generation sequencing (NGS), identifying the NM_000507.3:c.611_614del variant in homozygosis in the FBP1 gene. In silico analysis and 3D modeling were performed, suggesting that this variant is associated with a loss of sites for substrate and Mg2+ binding and for posttranslational modifications of FBPase. The c.611_614del variant is located in a repetitive region of the FBP1 gene that appears to be a hotspot for mutational events. This frameshift creates a premature termination codon in the last coding exon which escapes the nonsense-mediated decay mechanism, according to in silico analysis. This variant results in an intrinsically disordered protein with loss of substrate recognition and post-translational modification sites.

https://doi.org/10.1590/1678-4685-gmb-2020-0281 308 downloads

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil
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Randon, Dévora N.

; Sperb-Ludwig, Fernanda

; Vianna, Fernanda S. L.

; Becker, Ana P. P.

; Vargas, Carmen R.

; Sitta, Angela

; Sant’Ana, Alexia N.

; Schwartz, Ida V. D.

; Bitencourt, Fernanda H. de

Genetics and Molecular Biology

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2020, Volume 43 Nº 3 elocation 20190298

Resumo: En | Texto: En | PDF: En

Abstract Citrullinemia type 1 (CTLNI), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and mut0 methylmalonic acidemia (mut0 MMA) are inborn errors of metabolism (IEMs) associated with sudden unexpected death in infancy (SUDI). Its most common pathogenic variants are: c.1168G>A (CTLNI, ASS1 gene), c.1528G>C (LCHADD, HADHA gene), c.655A>T and c.1106G>A (mut0 MMA, MUT gene). Considering the absence of estimates regarding the incidence of these diseases in Brazil, this study sought to investigate the prevalence of its main pathogenic variants in a healthy population in the southern region of the country. A total of 1,000 healthy subjects from Rio Grande do Sul were included. Genotyping was performed by real-time PCR. Individuals found to be heterozygous for c.1528G>C underwent further acylcarnitine profile analysis by tandem mass spectrophotometry. Allele and genotype frequencies were calculated considering Hardy-Weinberg equilibrium. The c.1528G>C variant was detected in heterozygosity in two subjects (carrier frequency = 1:500; allele frequency = 0.001; minimum prevalence of LCHADD = 1: 1,000,000), whose acylcarnitine profiles were normal. Variants c.1168G>A, c.655A>T, and c.1106G>A were not identified. These results denote the rarity of these IEMs in Southern Brazil, highlighting the need to expand the investigation of IEMs in relation to infant morbidity and mortality within the country.

https://doi.org/10.1590/1678-4685-gmb-2019-0298 803 downloads

Methods of potassium contents evaluation in the substrate solution and gerbera leaves
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Ludwig, Fernanda

; Fernandes, Dirceu Maximino

; Guerrero, Amaralina Celoto

; Ferreira, Guilherme Amaral

; Pohlmann, Valeria

Ornamental Horticulture

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Set 2019, Volume 25 Nº 3 Páginas 238 - 246

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

RESUMO Vários autores relatam que o potássio (K) é o nutriente absorvido em maiores quantidades pelas plantas de gérbera. Assim, objetivou determinar a concentração de K na solução de substratos no cultivo de gérbera de vaso, quantificado pelo Cardy Horiba C-131 e espectrofotometria de absorção atômica e correlacioná-los entre si e com o teor foliar na planta. O experimento foi realizado em casa de vegetação. O delineamento experimental utilizado foi o de blocos ao acaso em esquema fatorial 5×2 (5 substratos/2 cultivares) e quatro repetições. As mudas de gérbera cultivares Cherry e Red, com quatro folhas definitivas foram transplantadas em vasos preenchidos com os substratos e aclimatadas durante 30 dias. Após a aclimatação, avaliou-se quinzenalmente o teor de K na solução do substrato extraída pela metodologia do “PourThru”, e o teor foliar de potássio das plantas de gérbera, utilizando-se o medidor de íons portátil Cardy Horiba C-131 e o espectrofotômetro de absorção atômica. A solução do substrato comercial apresentou maiores concentrações de K em relação aos demais nas duas formas de medição, o que está relacionado diretamente com os elevados teores iniciais do nutriente nesse substrato. Valores maiores de K foram obtidos para a cultivar Red, tanto na solução quanto nas folhas. A concentração de K da solução do substrato cultivado com plantas de gérbera envasada quantificada pelo Cardy Horiba C-131 e pela espectrofotometria de absorção atômica correlacionaram-se significativamente entre si, e apresentaram baixa correlação com o teor desse nutriente nas folhas.

Abstract Several authors report that potassium (K) is the nutrient absorbed in greater amounts by gerbera plants. Thus, objective of determining the concentration of Kin the solution of substrates for growing potted gerbera, quantified by the Cardy Horiba C-131 and an atomic absorption spectrophotometer, correlating them with each other and with the plant leaf content. The experiment was carried out in a greenhouse. The experimental design was in randomized complete blocks using a 5×2 factorial scheme (5 substrates/2 cultivars) and four replications. Cherry and Red gerbera cultivar seedlings with four final leaves were transplanted into pots, filled with the substrates and acclimated for 30 days. After acclimation, the K content in the substrate solution extracted by the “PourThru” methodology was evaluated every two weeks using the Cardy Horiba C-131 portable ion meter and an atomic absorption spectrophotometer, as well as the K content in the leaves of gerbera plants. The solution of the commercial substrate had higher concentrations of K in relation to the others in the two forms of measurement, which is directly related to the high initial contents of the nutrient in this substrate. This is directly related to the high initial K contents in the substrate. Greater values of K were obtained for the cultivar Red, both in the solution and in the leaves. The K concentration of the substrate solution cultured with gerbera plants quantified by the Cardy Horiba C-131 and atomic absorption spectrophotometry correlated significantly with each other and showed a low correlation with the content of this nutrient in the plant tissue.

https://doi.org/10.1590/2447-536x.v25i3.1535 1254 downloads

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma
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Sperb-Ludwig, Fernanda

; Alegra, Taciane

; Velho, Renata Voltolini

; Ludwig, Nataniel

; Siebert, Marina

; Jobim, Mariana

; Vairo, Filippo

; Schwartz, Ida V. D.

Genetics and Molecular Biology

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Set 2019, Volume 42 Nº 3 Páginas 571 - 573

Resumo: En | Texto: En | PDF: En

Abstract Mucolipidosis II and III (ML II and III) alpha/beta and ML III gamma are lysosomal diseases caused by GlcNAc-1-phosphotransferase deficiency. Previous data indicate that MLII patients have functionally impaired immune system that contributes to predisposition to infections.We evaluated the immunological phenotype of three Brazilian patients with ML III gamma. Our data suggest that the residual activity of GlcNAc-1-phosphotransferase in patients with ML III gamma is enough to allow the targeting of the lysosomal enzymes required for B-cell functions maintenance.

https://doi.org/10.1590/1678-4685-gmb-2018-0246 589 downloads

Development and quality of gladiolus stems with the use of vermicompost and Trichoderma sp. in substrate (1)
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Cruz, Letícia Rutz Dewantier da

; Ludwig, Fernanda

; Steffen, Gerusa Pauli Kist

; Maldaner, Joseila

Ornamental Horticulture

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Mar 2018, Volume 24 Nº 1 Páginas 70 - 77

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

RESUMO O gladíolo é uma importante flor de corte cultivada em todo o mundo, muito apreciada para uso em arranjos florais. A crescente preocupação com a contaminação ambiental e a busca pela produção com maior qualidade, tem resultado no aumento dos estudos com o uso de insumos orgânicos e microrganismos na floricultura, destacando-se o vermicomposto e o Trichoderma sp. O presente trabalho foi conduzido com o objetivo avaliar o desenvolvimento e a qualidade de hastes florais de gladíolo em função do uso de vermicomposto e de Trichoderma sp. aplicados ao substrato. O experimento foi conduzido em casa de vegetação, de agosto a dezembro de 2015. Foram utilizados quatro tratamentos: T1 = substrato controle (50% solo e 50% substrato comercial Carolina Soil®, T2 = vermicomposto (40%) e substrato controle (60%); T3 = Trichoderma sp. adicionado ao substrato controle; T4 = Trichoderma sp. adicionado ao vermicomposto (40%) e substrato controle (60%). A variedade de gladíolo utilizada foi a Peter's Pears. As variáveis analisadas foram: altura da planta principal, índice de clorofila Falcker, comprimento e diâmetro da haste principal, comprimento do pendão, número de floretes da haste principal, proporcionalidade entre pendão e haste e tempo até o início da floração. Concluiu-se que o desenvolvimento e a qualidade das hastes florais de gladíolo foram favorecidos pelo uso do vermicomposto na concentração de 40%, adicionado ao substrato.

ABSTRACT The gladiolus is an important cut flower that is cultivated in all parts of the world, and it is very appreciated to be used in floral arrangements. The growing concern with the environmental contamination and the look for production with higher quality have resulted in increasing the number of studies on the use of organic inputs and microorganisms in floriculture, in particular, the vermicompost and the Trichoderma sp. This work was conducted with the objective to evaluate the development and the quality of gladiolus floral stems in function of the use of vermicompost and Trichoderma sp. applied to the substrate. The experiment was conducted in a greenhouse during the period of August to December of 2015. It was done by utilizing four treatments: T1 = control substrate (50% soil and 50% commercial substrate Carolina Soil); T2 = vermicompost (40%) and control substrate (60%); T3 = Trichoderma sp. added to the control substrate; T4 = Trichoderma sp. added to the vermicompost (40%) and control substrate (60%). The gladiolus variety used was the Peter's Pears. The variables analyzed were main plant height, Falker chlorophyll index, length and diameter of the main stem, tassel length, quantity of main stem florets, proportionality between tassel and stem, and time until the start of flowering. It was concluded that the development and the quality of the gladiolus floral stem were favored by the use of vermicompost in the concentration of 40% added to the substrate.

https://doi.org/10.14295/oh.v24i1.1131 1260 downloads

Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients
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Poloni, Soraia

; Hoss, Giovana W.

; Sperb-Ludwig, Fernanda

; Borsatto, Taciane

; Doriqui, Maria Juliana R.

; Leão, Emília K.E.A

; Boa-Sorte, Ney

; Lourenço, Charles M.

; Kim, Chong A.

; Souza, Carolina F. M. de

; Rocha, Helio

; Ribeiro, Marcia

; Steiner, Carlos E.

; Moreno, Carolina A.

; Bernardi, Pricila

; Valadares, Eugenia

; Artigalas, Osvaldo

; Carvalho, Gerson

; Wanderley, Hector Y. C.

; D’Almeida, Vânia

; Santana-da-Silva, Luiz C.

; Blom, Henk J.

; Schwartz, Ida V. D.

Journal of Inborn Errors of Metabolism and Screening

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2018, Volume 6 elocation e180007

Resumo: En | Texto: En | PDF: En

Abstract This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the earliest detected symptom (53% of cases), the main reason for diagnostic suspicion (63% of cases), and the most prevalent manifestation at diagnosis (67% of cases). Pyridoxine responsiveness was observed in 14% of patients. Only 22% of nonresponsive patients on treatment had total homocysteine levels <100 mmol/L. Most commonly used treatment strategies were pyridoxine (93% of patients), folic acid (90%), betaine (74%), vitamin B12 (27%), and low-methionine diet + metabolic formula (17%). Most patients diagnosed with HCU in Brazil are late diagnosed, express a severe phenotype, and poor metabolic control. Milder forms of HCU are likely underrepresented due to underdiagnosis.

https://doi.org/10.1177/2326409818788900 1352 downloads

10.

Growth of Aechmea fasciata plants in function of substrate base saturation and fertirrigation methods
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Sanches, Luiz Vitor Crepaldi

; Ludwig, Fernanda

; Bôas, Roberto Lyra Villas

; Mateus, Caroline de Moura D’Andréa

Ornamental Horticulture

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Dez 2017, Volume 23 Nº 4 Páginas 444 - 450

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

RESUMO As bromélias são plantas que apresentam grande variabilidade quanto às possibilidades de adubação, devido à capacidade de absorção de água e nutrientes via tricomas foliares e sistema radicular. O trabalho foi conduzido com o objetivo de avaliar o desenvolvimento de plantas de Aechmea fasciata em função das saturações por base do substrato e formas de aplicação da solução nutritiva. O experimento foi conduzido em casa de vegetação, sob intensidade luminosa entre 8.000 e 9.000 Lx. Adotou-se o delineamento experimental em blocos ao acaso com esquema fatorial 2 × 5 (2 percentuais de saturação por bases do substrato x 5 combinações entre as formas de aplicação da fertirrigação) com 4 repetições, e 7 plantas por parcela. A saturação por bases do substrato (V%) estabelecida foi de 20 e 40% e a fertirrigação foi fornecida via cisterna da planta e diretamente no substrato, seguindo as seguintes proporções: 100% cisterna, 75% cisterna e 25% substrato, 50% cisterna e 50% substrato, 25% cisterna e 75% substrato e 100% substrato. As plantas foram conduzidas em vasos número 11, 15 e 17, e em cada troca de vaso foram avaliadas a altura de planta, o diâmetro da roseta, diâmetro de caule, número de folhas e largura de folha. A fitomassa seca e área foliar foram determinadas nas trocas dos vasos 15 e 17 e a exploração radicular e grau de inclinação das plantas ao final do cultivo em vaso 17. Saturações por bases superiores a 20% prejudicam o crescimento de plantas de Aechmea fasciata. Melhor desenvolvimento de parte aérea e sistema radicular de plantas de Aechmea fasciata são conseguidos quando 75% da solução nutritiva são aplicadas via cisterna e 25% via substrato.

ABSTRACT Bromeliads are plants that have a high variability in the fertilization possibilities. This is due to the capacity of absorption of water and nutrients by their foliar trichomes and root system. This research was conducted with the objective to evaluate the development of Aechmea fasciata plants according to the substrate base saturation and the application methods of the nutritive solution. The experiment was conducted in a greenhouse with light intensity between 8,000 and 9,000 Lx. The experimental design was a randomized block design with a factorial statistical arrangement 2×5 factorial (2 percentages of substrate base saturation x 5 combinations between the methods of fertirrigation) with 4 repetitions and 7 plants by portion. The substrate base saturation (V%) established was from 20% to 40% and the fertirrigation was provided by a leaf cistern and directly in the substrate, following these proportions: 100% leaf cistern, 75% leaf cistern and 25% substrate, 50% leaf cistern and 50% substrate, 25% leaf cistern and 75% substrate and 100% substrate. The plants were conducted in vase number 11, 15 and 17, and in each change of vases, it was evaluated the plant height, the rosette diameter, the stalk diameter, the number of leaves and the leaf width. The dry phytomass and leaf area were determined in the vase changes 15 and 17. Moreover, the root exploration and the inclination degree of the plants were determined in the end of the cultivation in vase 17. As conclusion, substrate base saturation greater than 20% damages the growth of Aechmea fasciata plants. The best development of the aerial and root part of Aechmea fasciata plants were achieved when 75% of the nutritive solution is applied via cistern and 25% via substrate.

https://doi.org/10.14295/oh.v23i4.1028 422 downloads

11.

Growth analysis of potted gerbera conducted with mineral fertilization and organic fertigation
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dos Santos, Francielly T

; Ludwig, Fernanda

; Costa, Luiz A. de M

; Costa, Mônica S. S. de M

; Remor, Marcelo B

; Silva, Plínio E. R

Ciencia e investigación agraria

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Abr 2016, Volume 43 Nº 1 Páginas 111 - 120

Resumo: En Es | Texto: En Es | PDF: En | PDF: Es

Potted gerbera is an ornamental plant that is widely commercialized in Brazilian markets. However, information on cultivation techniques is needed to meet growing demand, especially with regard to fertilization. This study was carried out to assess the growth of potted gerbera, Florist Red Black cultivar, with mineral and organic fertilization. The experiment was conducted in a greenhouse located at UNIOESTE - Cascavel Campus - PR. The experimental design was composed of randomized blocks with four replicates and five treatments. Treatments were defined according to the fertilization source, which were mineral (NPK) and organic. Organic fertilizers were obtained by diluting in water four organic composts from agroindustrial-waste composting processes. After obtaining composts, water dilution was performed, adjusting the nutritive solution electrical conductivity values. Gerbera plants were assessed fortnightly (0, 14, 28, 42, and 56 days after acclimatization) for leaf area and shoot dry matter, which were adjusted for time using the ANACRES program to obtain the leaf area ratio (LAR), relative growth rate (RGR), and net assimilation rate (NAR). Fifty-six days after acclimatization, plants were assessed for number of leaves, plant diameter, leaf area, leaves and inflorescences dry phytomass, stem height, head diameter, and stem diameter. The highest relative growth rates were obtained in plants grown with organic compost in treatment 3. However, the net assimilation rate, which indicates dry matter conversion efficiency, was highest in plants with chemical fertilization (treatment 1).

La gerbera es una planta ornamental que es ampliamente comercializada en el mercado brasileño. Sin embargo, para satisfacer la creciente demanda, es necesario contar información sobre las técnicas de cultivo, destacando la fertilización. Este trabajo se realizó con el fin de evaluar el crecimiento de gerbera en maceta, cultivar Floristería Rojo Negro, fertilizado con un producto mineral y fertilización orgánica. El experimento se realizó en un invernadero ubicado en UNIOESTE - Cascavel Campus - PR. El diseño experimental fue de bloques al azar, con cuatro tratamientos y cinco repeticiones. Los tratamientos se definieron de acuerdo a la fuente de la fertilización mineral (NPP) y orgánico. La fertilización orgánica se obtuvo diluyendo cuatro compuestos orgánicos de proceso de compostaje de residuos agroindustriales en agua. Después de la obtención de estos compuestos, se ajustaron los valores de conductividad eléctrica de la solución nutritiva. En las plantas de gerbera se evaluó cada dos semanas (0, 14, 28, 42 y 56 días después de la aclimatación), el área foliar y la materia seca, que se ajusta en relación con el tiempo con el programa ANACRES, con el fin de obtener la relación de área foliar (LAR), tasa de crecimiento relativo (RGR) y la tasa de asimilación neta (NAR). 56 días después de la aclimatación, se evaluó en el número de hojas, diámetro de la planta, área foliar, hojas e inflorescencias de fitomasa seca, altura de tallo, diámetro de la cabeza y el diámetro del tallo. Las mayores tasas de crecimiento relativo se obtuvieron en plantas realizados con abono orgánico en el tratamiento 3. Sin embargo, la tasa de asimilación neta, que indica la eficiencia de conversión de materia seca, fue mayor en las plantas con la fertilización química, en el tratamiento 1.

https://doi.org/10.4067/S0718-16202016000100010 1051 downloads

12.

New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals
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VELHO, RENATA V.

; SPERB-LUDWIG, FERNANDA

; SCHWARTZ, IDA V.D.

Anais da Academia Brasileira de Ciências

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Ago 2015, Volume 87 Nº 2 Páginas 1375 - 1388

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

Com o avanço e a popularização de técnicas moleculares, a identificação de mutações genéticas que causam doenças aumentou drasticamente. Deste modo, o número de laboratórios disponíveis para investigar uma determinada doença e, consequentemente, o número de diagnósticos, aumentou ao longo do tempo. Embora seja necessário identificar mutações e fornecer diagnósticos, é crucial também desenvolver abordagens terapêuticas específicas baseadas nestas informações. Esta revisão tem como objetivo destacar os avanços recentes em terapias mutação-alvo com produtos químicos que mitiguem a patologia mutacional ao nível molecular, para doenças que, para a maior parte, não têm tratamento eficaz. Atualmente, existem várias estratégias sendo utilizadas para corrigir diferentes tipos de mutações, incluindo as seguintes: a identificação e caracterização de compostos readthroughtraducionais; redirecionamento de splicingmediado por oligonucleotídeos de sentido contrário; reparo por mismatch; e salto de exon. Estas terapias e outras abordagens são revistas neste artigo.

With the advance and popularization of molecular techniques, the identification of genetic mutations that cause diseases has increased dramatically. Thus, the number of laboratories available to investigate a given disorder and the number of subsequent diagnosis have increased over time. Although it is necessary to identify mutations and provide diagnosis, it is also critical to develop specific therapeutic approaches based on this information. This review aims to highlight recent advances in mutation-targeted therapies with chemicals that mitigate mutational pathology at the molecular level, for disorders that, for the most part, have no effective treatment. Currently, there are several strategies being used to correct different types of mutations, including the following: the identification and characterization of translational readthrough compounds; antisense oligonucleotide-mediated splicing redirection; mismatch repair; and exon skipping. These therapies and other approaches are reviewed in this paper.

https://doi.org/10.1590/0001-3765201520140711 4124 downloads

13.

Características dos substratos na absorção de nutrientes e na produção de gérbera de vaso
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Ludwig, Fernanda

; Fernandes, Dirceu M

; Guerrero, Amaralina C

; Bôas, Roberto L Villas

Horticultura Brasileira

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Jun 2014, Volume 32 Nº 2 Páginas 184 - 189

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

O sistema de produção em substratos vem sendo empregado na maioria dos cultivos comerciais de flores e plantas ornamentais, dentre elas, a gérbera. Porém, sua introdução como flor envasada é recente no Brasil e ainda são necessários muitos estudos, especialmente aqueles relacionados com a determinação das propriedades físicas e químicas dos substratos, que contribuam para a sua qualidade produtiva. O presente trabalho foi conduzido com o objetivo de avaliar a influência de características de substratos na absorção de nutrientes e produção de gérbera de vaso. O experimento foi conduzido em casa de vegetação utilizando o delineamento de blocos ao acaso, esquema fatorial 5x2 (5 substratos e 2 cultivares) e 4 repetições. Os tratamentos consistiram de substratos com diferentes características físicas e químicas e as cultivares utilizadas foram Cherry e Red. As plantas conduzidas em substrato com pH acima de 7,0 tiveram redução na absorção de ferro, refletindo na menor intensidade de cor verde das folhas. Aquelas conduzidas em substrato com pH abaixo de 5,0 apresentaram níveis tóxicos de manganês e menor fitomassa seca. As características do substrato, em especial o pH, influenciam a absorção de nutrientes e a produção de gérbera de vaso, podendo alterar a qualidade final da planta.

The production systems on substrates have been employed in most commercial cultivation of flowers and ornamental plants, including gerbera. However, its introduction as potted flower is recent in Brazil and many studies, especially those related to the determination of substrates physical and chemical properties, which contribute to production quality are still needed. The present study aimed to assess the influence of substrates characteristics for nutrient absorption and production of potted gerbera. The experiment was carried out in greenhouse with the experimental design in randomized blocks, factorial arrangement 5x2 (5 substrates and 2 cultivars) and 4 replications. Treatments consisted of substrates with different physical and chemical characteristics and gerbera cultivars (Cherry and Red). Plants grown on substrate with pH above 7.0 had a reduction in iron absorption, resulting in lower intensity of green coloration in the leaves. Plants grown on substrate with pH below 5.0 showed toxic levels of manganese and lower dry mass. The characteristics of the substrate, especially the pH, influence the nutrients absorption and the production of potted gerbera, altering the final plant quality.

https://doi.org/10.1590/S0102-05362014000200011 5141 downloads

14.

Portable meters for nutritional assessment in plants of gerbera fertigated with electrical conductivity levels
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Mota, Poliana R. D'A.

; Villas Bôas, Roberto L.

; Ludwig, Fernanda

; Fernandes, Dirceu M.

; Folegatti, Marcos V.

Revista Brasileira de Engenharia Agrícola e Ambiental

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Mar 2014, Volume 18 Nº 3 Páginas 258 - 262

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

Os testes rápidos para avaliação do estado nutricional de plantas de gérbera podem tornar mais fácil a decisão de eventuais ajustes na fertilização do substrato. O estudo foi conduzido com o objetivo de se avaliar, nutricionalmente, plantas de gérbera fertirrigadas com níveis crescentes de condutividade elétrica (CE), utilizando-se medidores portáteis de nitrato e potássio, além de clorofilômetro. Para isto foram realizados dois experimentos. Utilizou-se um delineamento em blocos casualizados com cinco níveis de CE (0,5; 2,0; 3,5; 5,0 e 6,5 dS m-1) e quatro repetições. A cultivar Cherry foi utilizada no primeiro experimento e no segundo, duas cultivares (Cherry e Salmon Rose). No primeiro experimento a seiva das folhas foi submetida ao teste rápido de N-NO3- (equipamento Cardy Horiba C-141). Determinaram-se N-NO3- e K+ (C-131) na solução do substrato. Avaliou-se a intensidade da cor verde da folha no segundo experimento, com medidor portátil Chlorophyll Meter. Determinou-se o teor de N na folha diagnóstico no primeiro e no segundo experimento N e K da planta. Os testes rápidos se apresentam como bons indicadores do teor de N-NO3- e K+ no tecido vegetal tendo como vantagens a praticidade e a velocidade de determinação facilitando o monitoramento da fertilização do substrato por produtores e técnicos.

Rapid tests to assess the nutritional status of plants gerbera can make easier the decision of any adjustments in the fertilization of the substrate. The study was conducted to evaluate nutritionally fertigated gerbera plants with increasing levels of electrical conductivity (EC), using portable meters nitrate and potassium, and chlorophyll. For this, two experiments were conducted. A randomized block design with five levels of EC (0.5, 2.0, 3.5, 5.0 and 6.5 dS m-1) and four replications was used. Cherry cultivar was used in the first experiment. In the second experiment, two cultivars (Cherry and Salmon Rose) were used. In the first experiment, the sap of the leaves was subjected to rapid testing of N-NO3- (equipment Cardy Horiba C -141). N-NO3- and K+ (C-131) were determined in the substrate solution. The intensity of the green leaf, in the second experiment was evaluated with portable Chlorophyll Meter. The N content in the indicator leaf in the first and N and K contents in the plant in the second experiment were determined. Rapid tests are presented as good indicators of the level of N-NO3- and K+ in plant tissue, with the advantages of convenience and speed of determination, facilitating monitoring of fertilization of the substrate by producers and technicians.

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15.

Absorção de nutrientes em cultivares de gérbera cultivada em vaso
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Ludwig, Fernanda

; Fernandes, Dirceu M

; Guerrero, Amaralina C

; Boas, Roberto L Villas

Horticultura Brasileira

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Dez 2013, Volume 31 Nº 4 Páginas 622 - 627

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

A análise da absorção de nutrientes ao longo do ciclo da cultura é importante para o conhecimento das necessidades nutricionais nas épocas de maior demanda e programar a fertirrigação, sendo escassas as informações para gérbera. Assim, o objetivo foi quantificar a absorção das cultivares de gérbera de vaso Cherry e Red, conduzidas em substrato em um ciclo de cultivo no período de agosto a outubro de 2008. O experimento foi realizado em casa-de-vegetação com delineamento em blocos ao acaso, com parcela subdividida e 4 repetições. As parcelas foram compostas pelas cultivares e subparcelas pelas datas das coletas. Durante o desenvolvimento da cultura foram determinadas a fitomassa seca, o teor e acúmulo de nutrientes no tecido vegetal da parte aérea das plantas. Os macronutrientes foram absorvidos na seguinte ordem: K>N>Ca>Mg>P>S (524, 334, 119, 47, 42, 21 mg planta-1). Os micronutrientes foram absorvidos na seguinte ordem: Fe>Mn>B>Zn>Cu (7897, 1505, 801, 384, 63 µg planta-1). O período reprodutivo foi o de maior acúmulo de nutrientes, exceto para o Fe.

The analysis of the uptake of nutrients is important for understanding the nutritional requirements of a cultivar during its development and identifies periods of increased demand, which allows scheduling fertigation. Nevertheless, the information is limited for gerbera. Thus, the present study was conducted to determine the uptake of potted gerbera cultivars Cherry and Red conducted in substrate in a crop cycle in the period August-October 2008. The experiment was carried out in a greenhouse in a randomized block split plot with four replications. The plots were composed by cultivars and subplots by dates of collection. During the development of the plants, the content and accumulation of macro and micronutrients was assessed in plant tissue of the shoots. The macronutrients were accumulated in the following order: K>N>Ca>Mg>P>S (524, 334, 119, 47, 42, 21 mg plant-1). The micronutrients were accumulated in the following order: Fe>Mn>B>Zn>Cu (7897, 1505, 801, 384,63 µg plant-1). The reproductive was the period of greatest uptake of nutrients, except for Fe.

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