Avaliação genética e neurológica em uma amostra de indivíduos com transtornos globais do desenvolvimento

With the aim of analyzing which complementary tests are relevant in the diagnostic evaluation of individuals with pervasive developmental disorders, a protocol of clinical and laboratory evaluation was applied in 103 outpatients. The protocol included chromosomal analysis, screening for inborn errors of metabolism, cytogenetic and molecular study of the FRAXA, FRAXE, and FRAXF mutations, EEG, SPECT, and magnetic resonance imaging study. Eighty-four subjects concluded the complementary tests and were classified either as having autism, atypical autism or Asperger syndrome according to the DSM-IV criteria. Sixteen individuals, all bellonging to the two autistic groups, presented genetic or enviromental factors that may have lead to the behavioral disorders, showing the importance of diagnostic evaluation in this group of conditions. Neuroimaging and EEG findings were non-specific and occurred in similar proportion among the groups, being considered of relative low significance in the diagnostic evaluation of individuals with pervasive developmental disorders.Visando analisar quais exames complementares são relevantes na avaliação diagnóstica de uma amostra de indivíduos com transtornos globais do desenvolvimento, 103 pacientes atendidos em nível ambulatorial foram submetidos a um protocolo composto por avaliação clínica e exames complementares, os quais incluíam cariótipo, estudo molecular da síndrome do cromossomo X frágil, cromatografia de aminoácidos, EEG, SPECT e ressonância magnética. Foram selecionados 84 indivíduos que completaram a investigação laboratorial e apresentavam diagnóstico de autismo, autismo atípico ou síndrome de Asperger, de acordo com os critérios do DSM-IV. Em 16 indivíduos foram identificados distúrbios ambientais ou geneticamente determinados que podem ter causado o quadro comportamental, ressaltando a importância de uma avaliação diagnóstica meticulosa em tais casos. Os achados de neuroimagem e EEG foram inespecíficos e estiveram presentes em proporções semelhantes entre os três grupos, sendo considerados pouco elucidativos na avaliação diagnóstica de indivíduos com transtornos globais do desenvolvimento.17618

Potassium nitrate priming to mitigate the salt stress on cucumber seedlings

Salinity is one of the abiotic stresses that further limit the seed germination and growth of plants because of low water potential of the soil. In this study, seeds of cucumber (Cucumis sativus L., cv. Aodai Melhorado) were used to investigate the effects of potassium nitrate priming on germination and early seedling growth under different salinity levels. It was hypothesized that priming with potassium nitrate may improve seed germination and plant establishment by mitigating the negative effects of saline stress through its role in cell osmotic balance. The seeds were soaked in distilled water or in a 2 g L–1 KNO3 solution at 25 °C for 6 hours, and after drying, were distributed in plastic boxes with blotter paper containing different salt solutions prepared with concentrations of 0 (control), 25, 50, 75 and 100 mmol NaCl L–1. The plastic boxes were kept into a seed germinator, at 25 °C for 10 days. A completely randomized design in a 2 × 5 factorial scheme with four replications of 25 seeds each was used. The results showed that the priming of cucumber seeds with potassium nitrate had little effect to improve germination capacity and growth rate of seedlings under salt stress conditions. Low salt concentrations may induce osmotic adjustment activity in the cucumber plants and lead to increases in hypocotyl and radicle length of seedlings, whereas higher concentrations cause severe inhibition of plant growth. The ‶Aodai Melhorado″ cucumber cultivar is a moderately tolerant genotype to salt stress during the germination and seedling establishment stage by presenting yield stability index greater than 0.50 until the level of 100 mmol NaCl L–1.Salinity is one of the abiotic stresses that further limit the seed germination and growth of plants because of low water potential of the soil. In this study, seeds of cucumber (Cucumis sativus L., cv. Aodai Melhorado) were used to investigate the effects of potassium nitrate priming on germination and early seedling growth under different salinity levels. It was hypothesized that priming with potassium nitrate may improve seed germination and plant establishment by mitigating the negative effects of saline stress through its role in cell osmotic balance. The seeds were soaked in distilled water or in a 2 g L-1 KNO3 solution at 25 ºC for 6 hours, and after drying, were distributed in plastic boxes with blotter paper containing different salt solutions prepared with concentrations of 0 (control), 25, 50, 75 and 100 mmol NaCl L-1. The plastic boxes were kept into a seed germinator, at 25 ºC for 10 days. A completely randomized design in a 2 x 5 factorial scheme with four replications of 25 seeds each was used. The results showed that the priming of cucumber seeds with potassium nitrate had little effect to improve germination capacity and growth rate of seedlings under salt stress conditions. Low salt concentrations may induce osmotic adjustment activity in the cucumber plants and lead to increases in hypocotyl and radicle length of seedlings, whereas higher concentrations cause severe inhibition of plant growth. The “Aodai Melhorado” cucumber cultivar is a moderately tolerant genotype to salt stress during the germination and seedling establishment stage by presenting yield stability index greater than 0.50 until the level of 100 mmol NaCl L-1

PHYSICAL CHARACTERIZATION OF FRUITS AND SEEDS Inga laurina (Sw.) Willd. (Fabaceae - Mimosaceae)

The main physical and morphological characteristics of Inga laurina (Sw.) Willd. (Fabaceae –Mimosaceae) fruits and seeds, and correlation estimates between these characteristics were investigate in this study. Mature fruits of I. laurina were collected from matrices trees established in a savannah area located at the municipality of Cassilândia, Mato Grosso do Sul, Brazil. The length, width, and thickness of 100 fruits and 100 seeds were measured. The fresh mass of fruits, pulp and seeds, and seed number per fruit were quantified. Data were analyzed by using descriptive statistics, adjustment of statistical distributions, and Spearman's rank correlation analysis (rS). The I. laurina presents variation in the size and weight of fruits, pulp, and seeds, which can be explored for breeding programs and should be considered in the formation of seed lots that are more homogeneous. The fruits of I. laurina species are composed of 41% of pulp, 39% of bark and 20% of the seed. The greater fruit pulp yield can be optimized with the selection of fruits with greater fresh mass and longer due to the high degree of association between these characteristics and the pulp yield. The fruit length is a good indication in the selection of seeds with greater weight

Genotype And Natural History In Unrelated Individuals With Phenylketonuria And Autistic Behavior.

We describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (PKU) and autistic behavior, all showing poor adhesion to the dietary treatment resulting in high plasmatic phenylalanine levels, particularly in the oldest subject. Clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with absent development of verbal language and autistic symptoms in all three patients, whereas variable neurological signs such as seizures, spasticity, ataxia, aggressivity, and hyperactivity were individually found. Homozygosity for the IVS10nt11g/a (IVS10nt546) was found in all. This is the first report of molecular findings in subjects with PKU also presenting with autistic features. The authors discuss if this mutation is particularly involved in the association of autistic symptoms in untreated PKU individuals.65202-

Randomized in vivo evaluation of photodynamic antimicrobial chemotherapy on deciduous carious dentin

The aim of this randomized in vivo study was to compare antimicrobial chemotherapies in primary carious dentin. Thirty-two participants ages 5 to 7 years underwent partial caries removal from deep carious dentin lesions in primary molars and were subsequently divided into three groups: control [chlorhexidine and resin-modified glass ionomer cement (RMGIC)], LEDTB [photodynamic antimicrobial chemotherapy (PACT) with light-emitting diode associated with toluidine blue solution and RMGIC], and LMB [PACT with laser associated with methylene blue solution and RMGIC]. The participants were submitted to initial clinical and radiographic examinations. Demographic features and biofilm, gingival, and DMFT/DMFS indexes were evaluated, in addition to clinical and radiographic followups at 6 and 12 months after treatments. Carious dentin was collected before and after each treatment, and the number of Streptococcus mutans, Streptococcus sobrinus, Lactobacillus casei, Fusobacterium nucleatum, Atopobium rimae, and total bacteria was established by quantitative polymerase chain reaction. No signs of pain or restoration failure were observed. All therapies were effective in reducing the number of microorganisms, except for S. sobrinus. No statistical differences were observed among the protocols used. All therapies may be considered as effective modern approaches to minimal intervention for the management of deep primary caries treatment2010FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP#2010/07212-5; #2011/08392-

NITROGÊNIO E Azospirillum brasilense NO DESENVOLVIMENTO INICIAL DA CANA-DE-AÇÚCAR

The use of plant growth promoting bacteria and nitrogen fertilization can improve the growth and development of sugarcane plants due to improved nitrogen acquisition by plants. This study was carried out to evaluate the effects of the interaction between inoculation of Azospirillum brasilense and the application of N on the initial growth of sugarcane plants (Saccharum spp.). Twenty-day-old plants from 3.0 cm long mini-stems of the RB 86-7515 sugarcane variety, produced in plastic trays containing commercial substrate were used. The plants were transplanted to 12 L plastic pots. The experimental design was a randomized block design, arranged in a 2 × 5 factorial scheme, with four replications. The treatments were constituted by inoculation or not of seedlings with Azospirillum brasilense and the application of five nitrogen rates (0, 30, 60, 90 and 120 mg dm–3 of N). At 60 days after plant transplantation, leaf number (NF), number of tillers (NP), plant height (AP), stem diameter (DC), shoot dry matter yield (MSPA) were evaluated. and from the roots (MSR). The results showed that the application of Azospirillum brasilense inoculant during the initial phase of plant growth has a beneficial effect on sugarcane development only when associated with high doses of nitrogen in cover. In the absence of nitrogen fertilization, sugarcane variety RB 86-7515 has negative response to plant inoculation with Azospirillum brasilense.O uso de bactérias promotoras de crescimento de plantas e a adubação nitrogenada pode melhorar o crescimento e o desenvolvimento das plantas de cana-de-açúcar devido à melhoria na aquisição de nitrogênio pelas plantas. Este estudo foi conduzido com o objetivo de avaliar os efeitos da interação entre a inoculação de Azospirillum brasilense e a aplicação de nitrogênio em cobertura no crescimento inicial das plantas de cana-de-açúcar (Saccharum spp.). Foram utilizadas plantas de 25 dias, oriundas de minirrebolos de 3 cm de comprimento da variedade de cana-de-açúcar RB 86-7515, produzidas em bandejas plásticas contendo substrato comercial. As plantas foram transplantadas para vasos plásticos de 12 L. O delineamento experimental utilizado foi o de blocos casualizados, disposto em esquema fatorial 2 × 5, com quatro repetições. Os tratamentos foram constituídos pela inoculação ou não das mudas com Azospirillum brasilense e pela aplicação de cinco doses de nitrogênio em cobertura (0, 30, 60, 90 e 120 mg dm–3 de N). Aos 60 dias após o transplante das plantas, foram avaliadas o número de folhas (NF), número de perfilhos (NP), altura de planta (AP), diâmetro do colmo (DC), produção de matéria seca da parte aérea (MSPA) e das raízes (MSR). Os resultados evidenciaram que a aplicação de inoculante contendo Azospirillum brasilense durante a fase de crescimento inicial das plantas tem efeito benéfico no desenvolvimento da cana-de-açúcar somente quando associado com altas doses de nitrogênio em cobertura. Na ausência de adubação nitrogenada, a variedade de cana‑de‑açúcar RB 86-7515 tem resposta negativa à inoculação das plantas com Azospirillum brasilense

Genótipo e história natural em indivíduos não aparentados com fenilcetonúria e comportamento autístico

We describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (PKU) and autistic behavior, all showing poor adhesion to the dietary treatment resulting in high plasmatic phenylalanine levels, particularly in the oldest subject. Clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with absent development of verbal language and autistic symptoms in all three patients, whereas variable neurological signs such as seizures, spasticity, ataxia, aggressivity, and hyperactivity were individually found. Homozygosity for the IVS10nt11g/a (IVS10nt546) was found in all. This is the first report of molecular findings in subjects with PKU also presenting with autistic features. The authors discuss if this mutation is particularly involved in the association of autistic symptoms in untreated PKU individuals.Descrevemos três indivíduos não aparentados, dois do sexo masculino (com idades de 35 e nove anos) e um do sexo feminino (com idade de oito anos) apresentando fenilcetonúria diagnosticada tardiamente e comportamento autístico, todos com adesão limitada ao tratamento dietético resultando em altos níveis plasmáticos de fenilalanina, especialmente no indivíduo mais velho. Os achados clínicos incluem hipopigmentação de cabelos, retardo mental grave com ausência de desenvolvimento da linguagem verbal e sintomas autísticos nos três pacientes, enquanto outros achados neurológicos como convulsões, espasticidade, ataxia, agressividade e hiperatividade são descritos em um indivíduo, cada. Homozigose para a mutação IVS10nt11g/a (IVS10nt546) foi encontrada em todos. Este é o primeiro relato de achados moleculares em indivíduos com fenilcetonúria que desenvolveram características autísticas. Discute-se se essa mutação estaria particularmente envolvida no desenvolvimento de sintomas autísticos em indivíduos com fenilcetonúria não tratada.20220

Glycogen storage diseases : twenty‐seven new variants in a cohort of 125 patients

Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well‐recognized diseases that can occur without the full spectrum, and with overlapping in symptoms.We analyzed a cohort of 125 patients with suspected hepatic GSD through a next‐generation sequencing (NGS) gene panel in Ion Torrent platform. New variants were analyzed by pathogenicity prediction tools.Twenty‐seven new variants predicted as pathogenic were found between 63 variants identified. The most frequent GSD was type Ia (n = 53), followed by Ib (n = 23). The most frequent variants were p.Arg83Cys (39 alleles) and p.Gln347* (14 alleles) in G6PC gene, and p.Leu348Valfs (21 alleles) in SLC37A4 gene.The study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. We determined the clinical utility of NGS for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results.711CNPQ - Conselho Nacional de Desenvolvimento Científico e TecnológicoNão te

Zinc - rooting cofactor in rubber tree mini-cuttings

The rubber tree (Hevea brasiliensis Müell. Arg.) is a species of significant economic interest in the natural rubber industry in Brazil and the world. This species presents recalcitrance to rooting, and its cuttings are difficult to propagate. This study aimed to evaluate the effect of the pre-conditioning of rubber tree mini-cuttings with zinc on the improvement of the adventitious rooting of rootstocks. Mini-cuttings were standardized with 45 mm length and submitted to preconditioning by immersion of the mini-cutting base in solutions containing 0.00; 0.04; 0.08; 0.16; 0.32 and 0.64 mg L-1 of Zn, for 24 hours. The experimental design was randomized blocks with six treatments and four replicates of 10 mini-cuttings. The rubber tree mini-cuttings were placed in a fitotron-type growth chamber, at 25 °C, with 12-hour photoperiod, 5,000 K intensity, and 95% of relative air humidity, for 60 days. The survival rate, number of buds, percentage of mini-cuttings that had leaf abscission, the percentage of mini-cuttings with callogenesis in the root meristem, the percentage of rooted mini-cuttings, the number of primary roots and root length were evaluated. The highest values of survival rate, the number of buds, the number of primary roots, the percentage of mini-cuttings with callogenesis in the root meristem, the percentage of rooted mini-cuttings and root length were observed with 0.16 to 0.26 Mg L-1 of Zn. The use of zinc in the mini-cuttings of rubber tree reduces linearly the percentage of mini-cuttings that had leaf abscission and the formation of callogenesis in the root meristem.   The rubber tree (Hevea brasiliensis Müell. Arg.) is a species of a large economic interest in the natural rubber industry in Brazil and the world. This species presents recalcitrance to rooting, and its cuttings are difficult to propagate. This study aimed to evaluate the effect of the pre-conditioning of rubber tree mini-cuttings with zinc on the improvement of the adventitious rooting of rootstocks. Mini-cuttings were standardized with 45 mm length and submitted to preconditioning by immersion of the mini-cutting base in solutions containing 0; 0.04; 0.08; 0.16; 0.32 and 0.64 mg L-1 of Zn, for 24 hours. The experimental design was randomized blocks with six treatments and four replicates of 10 mini-cuttings. The rubber tree mini-cuttings were placed in a fitotron-type growth chamber at 25 °C, with 24-hour photoperiod, 5,000 K intensity and 95% relative humidity for 60 days. The survival rate, number of buds, percentage of mini-cuttings that had leaf abscission, the percentage of mini-cuttings with callus, the percentage of rooted mini-cuttings, the number of primary roots and root length were evaluated. The highest values of survival rate, the number of buds, the number of primary roots, the percentage of mini-cuttings with callus, the percentage of rooted mini-cuttings and root length were verified with 0.16 to 0.26 Mg L-1 of Zn. The use of zinc in the mini-cuttings of rubber tree reduces linearly the percentage of mini-cuttings that had leaf abscission and the formation of root calluses

Enzyme replacement therapy for mucopolysaccharidosis type I among patients followed within the MPS Brazil network

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of ≥ ± 20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed.Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Fewclinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, n3712329CNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICOsem informaçã