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1.
J Microsc ; 259(1): 16-25, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25818279

RESUMO

Cryogenic electron microscopy (cryo-EM) is a powerful tool for imaging liquid and semiliquid systems. While cryogenic transmission electron microscopy (cryo-TEM) is a standard technique in many fields, cryogenic scanning electron microscopy (cryo-SEM) is still not that widely used and is far less developed. The vast majority of systems under investigation by cryo-EM involve either water or organic components. In this paper, we introduce the use of novel cryo-TEM and cryo-SEM specimen preparation and imaging methodologies, suitable for highly acidic and very reactive systems. Both preserve the native nanostructure in the system, while not harming the expensive equipment or the user. We present examples of direct imaging of single-walled, multiwalled carbon nanotubes and graphene, dissolved in chlorosulfonic acid and oleum. Moreover, we demonstrate the ability of these new cryo-TEM and cryo-SEM methodologies to follow phase transitions in carbon nanotube (CNT)/superacid systems, starting from dilute solutions up to the concentrated nematic liquid-crystalline CNT phases, used as the 'dope' for all-carbon-fibre spinning. Originally developed for direct imaging of CNTs and graphene dissolution and self-assembly in superacids, these methodologies can be implemented for a variety of highly acidic systems, paving a way for a new field of nonaqueous cryogenic electron microscopy.

2.
Nanotechnology ; 26(10): 105706, 2015 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-25694166

RESUMO

Acid spun carbon nanotube (CNT) fibers were investigated for their field emission properties and performance was determined to be dependent on fiber morphology. The fibers were fabricated by wet-spinning of pre-made CNTs. Fiber morphology was controlled by a fabrication method and processing conditions, as well as purity, size, and type of the CNT starting material. The internal fiber structure consisted of CNT fibrils held together by van der Waals forces. Alignment and packing density of the CNTs affects the fiber's electrical and thermal conductivity. Fibers with similar diameters and differing morphology were compared, and those composed of the most densely packed and well aligned CNTs were the best field emitters as exhibited by a lower turn-on voltage and a larger field enhancement factor. Fibers with higher electrical and thermal conductivity demonstrated higher maximum current before failure and longer lifetimes. A stable emission current at 3 mA was obtained for 10 h at a field strength of <1 V µm(-1). This stable high current operation makes these CNT fibers excellent candidates for use as low voltage electron sources for vacuum electronic devices.

3.
J Environ Manage ; 159: 128-134, 2015 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-26063517

RESUMO

The Stabilization of heavy metals from municipal solid waste incineration (MSWI) fly ash by rice husk ash (RHA) is under intense study as an effective strategy to recover and reuse industrial and agricultural waste together. We compare the metal entrapment performances of RHA from different Asian rice sources ­ namely from Japonica rice grown in Italy and Indica rice grown in India ­ Physicochemical and morphological characterization of the final stabilized material show that the same thermal treatment may result in marked structural differences in the silica contained in the two RHA. Remarkably, one of them displays a crystalline silica content, although obtained by a thermal treatment below 800 °C. We also find that the presence of an alkali metal ion (potassium) in the rice husk plays a crucial role in the attainment of the final silica phase. These physicochemical differences are mirrored by different stabilization yields by the two RHA.


Assuntos
Cinza de Carvão/química , Incineração/métodos , Metais Pesados/química , Oryza , Resíduos Sólidos , Cinza de Carvão/análise , Metais Pesados/análise , Potássio/química , Dióxido de Silício/química , Temperatura
4.
Fungal Genet Biol ; 51: 42-9, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23219667

RESUMO

Fumonisins, toxic secondary metabolites produced by some Fusarium spp. and Aspergillus niger, have strong agro-economic and health impacts. The genes needed for their biosynthesis, named FUM, are clustered and co-expressed in fumonisin producers. In eukaryotes, coordination of transcription can be attained through shared transcription factors, whose specificity relies on the recognition of cis-regulatory elements on target promoters. A bioinformatic analysis on FUM promoters in the maize pathogens Fusarium verticillioides and Aspergillus niger identified a degenerated, over-represented motif potentially involved in the cis-regulation of FUM genes, and of fumonisin biosynthesis. The same motif was not found in various FUM homologues of fungi that do not produce fumonisins. Comparison of the transcriptional strength of the intact FUM1 promoter with a synthetic version, where the motif had been mutated, was carried out in vivo and in planta for F. verticillioides. The results showed that the motif is important for efficient transcription of the FUM1 gene.


Assuntos
Vias Biossintéticas/genética , Fumonisinas/metabolismo , Proteínas Fúngicas/biossíntese , Fusarium/genética , Regulação Fúngica da Expressão Gênica , Sequências Reguladoras de Ácido Nucleico , Transcrição Gênica , Análise Mutacional de DNA , Fusarium/patogenicidade , Doenças das Plantas/microbiologia , Zea mays/microbiologia
5.
Clin Genet ; 83(5): 422-31, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-22909335

RESUMO

Valosin containing protein (VCP) disease associated with inclusion body myopathy, Paget disease of the bone and frontotemporal dementia is a progressive autosomal dominant disorder caused by mutations in Valosin containing protein gene. To establish genotype-phenotype correlations we analyzed clinical and biochemical markers from a database of 190 members in 27 families harboring 10 missense mutations. Individuals were grouped into three categories: symptomatic, presymptomatic carriers and noncarriers. The symptomatic families were further divided into ten groups based on their VCP mutations. There was marked intra and inter-familial variation; and significant genotype-phenotype correlations were difficult to establish because of small numbers. Nevertheless when comparing the two most common mutations, R155C mutation was found to be more severe, with an earlier onset of myopathy and Paget (p = 0.03). Survival analysis of all subjects revealed an average life span after diagnosis of myopathy and Paget of 18 and 19 years respectively, and after dementia only 6 years. R155C had a reduced survival compared to the R155H mutation (p = 0.03).We identified amyotrophic lateral sclerosis (ALS) was diagnosed in 13 individuals (8.9%) and Parkinson's disease in five individuals (3%); however, there was no genotypic correlation. This study represents the largest dataset of patients with VCP disease and expands our understanding of the natural history and provides genotype-phenotype correlations in this unique disease.


Assuntos
Adenosina Trifosfatases/genética , Proteínas de Ciclo Celular/genética , Demência Frontotemporal/complicações , Estudos de Associação Genética , Miosite de Corpos de Inclusão/complicações , Miosite de Corpos de Inclusão/genética , Osteíte Deformante/complicações , Adenosina Trifosfatases/metabolismo , Adulto , Idoso , Biópsia , Proteínas de Ciclo Celular/metabolismo , Eletromiografia , Éxons , Feminino , Demência Frontotemporal/diagnóstico , Demência Frontotemporal/mortalidade , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Mutação , Miosite de Corpos de Inclusão/diagnóstico , Miosite de Corpos de Inclusão/mortalidade , Condução Nervosa , Osteíte Deformante/diagnóstico , Osteíte Deformante/mortalidade , Proteína com Valosina , Adulto Jovem
6.
Mol Genet Metab ; 106(1): 73-82, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22405600

RESUMO

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). This enzyme is required for the degradation of dermatan sulfate. In its absence, dermatan sulfate accumulates in cells and is excreted in large quantities in urine. Specific therapeutic intervention is available; however, accurate and timely diagnosis is crucial for maximal benefit. To better understand the current practices for diagnosis and to establish diagnostic guidelines, an international MPS VI laboratory diagnostics scientific summit was held in February of 2011 in Miami, Florida. The various steps in the diagnosis of MPS VI were discussed including urinary glycosaminoglycan (uGAG) analysis, enzyme activity analysis, and molecular analysis. The following conclusions were reached. Dilute urine samples pose a significant problem for uGAG analysis and MPS VI patients can be missed by quantitative uGAG testing alone as dermatan sulfate may not always be excreted in large quantities. Enzyme activity analysis is universally acknowledged as a key component of diagnosis; however, several caveats must be considered and the appropriate use of reference enzymes is essential. Molecular analysis supports enzyme activity test results and is essential for carrier testing, subsequent genetic counseling, and prenatal testing. Overall the expert panel recommends caution in the use of uGAG screening alone to rule out or confirm the diagnosis of MPS VI and acknowledges enzyme activity analysis as a critical component of diagnosis. Measurement of another sulfatase enzyme to exclude multiple sulfatase deficiency was recommended prior to the initiation of therapy. When feasible, the use of molecular testing as part of the diagnosis is encouraged. A diagnostic algorithm for MPS VI is provided.


Assuntos
Glicosaminoglicanos/urina , Mucopolissacaridose VI/diagnóstico , N-Acetilgalactosamina-4-Sulfatase , Cerebrosídeo Sulfatase/sangue , Cerebrosídeo Sulfatase/urina , Teste em Amostras de Sangue Seco , Humanos , Mucopolissacaridose VI/enzimologia , N-Acetilgalactosamina-4-Sulfatase/sangue , N-Acetilgalactosamina-4-Sulfatase/genética , N-Acetilgalactosamina-4-Sulfatase/urina
7.
J Cardiovasc Comput Tomogr ; 16(5): 460-462, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35292218

RESUMO

In left atrial appendage occlusion (LAAO), pre-procedural imaging is pivotal to describe the highly variable LAA anatomy and to guide the operator in device sizing and interventional planning. Multiplanar reconstruction and 3D rendering are used for the interpretation of 3D CT datasets. However, this method of review of such imaging, which is mediated by 2D screens, may be limited due to the lack of true 3D visualization of the structures of interest; Mixed Reality (MxR) may further improve the CT-based pre-procedural planning by allowing for real-3D visualizations with holographic replicas of anatomical models. In this manuscript we present a novel software based on MxR and we evaluated its feasibility on different LAA morphologies. The morphological analysis of the holographic anatomical models was successfully applied for all the patients (n â€‹= â€‹4) independently from the morphology and it was performed in less than 10 minutes. Our findings suggest that with further developments MxR could have the potential to become a pivotal tool in LAA occlusion planning thanks to the real-3D perception, possibly leading to a more accurate and faster planning phase.


Assuntos
Apêndice Atrial , Fibrilação Atrial , Realidade Aumentada , Fibrilação Atrial/diagnóstico por imagem , Fibrilação Atrial/cirurgia , Cateterismo Cardíaco , Ecocardiografia Transesofagiana/métodos , Estudos de Viabilidade , Humanos , Imageamento Tridimensional/métodos , Valor Preditivo dos Testes , Resultado do Tratamento
8.
Clin Genet ; 80(6): 566-73, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21204800

RESUMO

Disorders of the Ras/mitogen-activated protein kinase (MAPK) pathway have an overlapping skeletal phenotype (e.g. scoliosis, osteopenia). The Ras proteins regulate cell proliferation and differentiation and neurofibromatosis type 1 (NF1) individuals have osteoclast hyperactivity and increased bone resorption as measured by urine pyridinium crosslinks [pyridinoline (Pyd) and deoxypyridinoline (Dpd)]. Pyd and Dpd are hydroxylysine-derived crosslinks of collagen found in bone and cartilage and excreted in the urine. Dpd is most abundant in bone. The aim of this study was to evaluate if other syndromes of the Ras/MAPK pathway have increased bone resorption, which may impact the skeletal phenotype. Participants were individuals with Noonan syndrome (n = 14), Costello syndrome (n = 21), and cardiofaciocutaneous (CFC) syndrome (n = 14). Pyridinium crosslinks from two consecutive first morning urines were extracted after acid hydrolysis and analyzed by high performance liquid chromatography. Three separate analyses of covariance were performed to compare Pyd, Dpd, and Dpd/Pyd ratio of each group to controls after controlling for age. Data were compared to 99 healthy controls. The Dpd and the Dpd/Pyd ratio were elevated (p < 0.0001) in all three conditions compared to controls suggesting that collagen degradation was predominantly from bone. The data suggest that the Ras/MAPK signal transduction pathway is important in bone homeostasis.


Assuntos
Reabsorção Óssea/patologia , Sistema de Sinalização das MAP Quinases , Proteínas Proto-Oncogênicas p21(ras)/genética , Transdução de Sinais , Absorciometria de Fóton , Adolescente , Adulto , Aminoácidos/urina , Biomarcadores/urina , Densidade Óssea , Reabsorção Óssea/genética , Reabsorção Óssea/urina , Estudos de Casos e Controles , Criança , Pré-Escolar , Cromatografia Líquida de Alta Pressão , Estudos de Coortes , Colágeno/urina , Síndrome de Costello/genética , Síndrome de Costello/patologia , Síndrome de Costello/urina , Análise Mutacional de DNA , Displasia Ectodérmica/genética , Displasia Ectodérmica/patologia , Displasia Ectodérmica/urina , Fácies , Insuficiência de Crescimento/genética , Insuficiência de Crescimento/patologia , Insuficiência de Crescimento/urina , Feminino , Testes Genéticos , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/patologia , Cardiopatias Congênitas/urina , Humanos , Hidrólise , Masculino , Síndrome de Noonan/genética , Síndrome de Noonan/patologia , Síndrome de Noonan/urina , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Adulto Jovem
9.
Nanotechnology ; 22(37): 375605, 2011 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-21852733

RESUMO

Solution template wetting is a common technique used to fabricate elongated polymer nanostructures; however, the parameters controlling the resulting morphology remain unclear. The purpose of this investigation was to elucidate the effects of process variables on the types of nanostructures obtained and to understand the physical mechanisms associated with structure development. 1 wt% polystyrene-THF solutions were infiltrated into commercial and homemade anodized aluminum oxide (AAO) templates. The wetting interaction between the AAO template and the polymer solution was examined through contact angle measurements. In general, for moderate dipping times (<18 h), the morphology of the nanopolymer was rod-like at low molecular weights, while tubes were observed at high molecular weight, even at this low concentration. Nanorods were obtained for all molecular weights for extended dipping times. The data suggest that phase separated layers may grow sequentially from the pore walls and yield nanotubes if the growth is interrupted or produce nanorods for unhindered deposition over long periods.

10.
Plant Dis ; 93(11): 1217, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30754597

RESUMO

Head blight caused by Fusarium graminearum is one of the major diseases of wheat (Triticum aestivum L.) in Luxembourg (2) and there is concern for mycotoxins in diseased grain. Isolates of F. graminearum have been assigned to chemotypes based on the particular toxins produced. Ten wheat fields representing different topoclimatological areas of Luxembourg were surveyed in 2007 and 2008 to determine the frequency and distribution of chemotypes. Partially blighted wheat heads were collected, and diseased grains were plated on Fusarium-selective agar (dichloran-chloramphenicol-peptone) for 12 days at 22 ± 2°C with a 12-h light period. Monoconidial isolates of F. graminearum (79 in 2007 and 85 in 2008) were obtained by conidia dilution on 2% water agar and needle selection under a microscope. F. graminearum isolates showed rapid growth on potato dextrose agar, dense aerial mycelium with red pigment deposits in the plate, macroconidia with five to six defined septa, and a basal cell with the typical foot shape. Microconidia were absent. To confirm species identification, a PCR reaction was carried out using the F. graminearum species-specific primers Fg16F (5'-CTCCGGATATGTTGCGTCAA-3') and Fg16R (5'-GGTAGGTATCCGACATGGCAA-3') according to Demeke et al. (1). Chemotype of each isolate was determined according to Ward et al. (4). In particular, PCR primer 12CON (5' CATGAGCATGGTGATGTC-3') coupled with primer 12NF (5'-TCTCCTCGTTGTATCTGG-3') and primer 3CON (5'-TGGCAAAGACTGGTTCAC-3') coupled with primer 3NA (5'-GTGCACAGAATATACGAGC-3') identified the nivalenol chemotype, primer 12CON coupled with primer 12-15F (5'-TACAGCGGTCGCAACTTC-3') and primer 3CON coupled with primer 3D15A (5'-ACTGACCCAAGCTGCCATC-3') identified the 15-acetylated deoxynivalenol (DON) chemotype, while primer 12CON coupled with primer 12-3F (5'-CTTTGGCAAGCCCGTGCA-3') and primer 3CON coupled with primer 3D3A (5'-CGCATTGGCTAACACATG-3') identified 3-acetylated DON chemotype. Reactions were repeated two times and positive controls (provided by Kerry O'Donnell, NRRL collection, Peoria, IL) and a negative control (water) were used in each reaction. Frequency of the nivalenol chemotype was found to be 2.5% in 2007 and 1% in 2008. Interestingly, the nivalenol chemotype was absent in southern Luxembourg. According to this finding, nivalenol was likely to be present at low levels in grain from Reisdorf and Echternach in 2007 (central Luxembourg) and in 2008 from grain of Troisvierges (northern Luxembourg). The remaining isolates in both years belonged to the 15-acetylated DON chemotype and the 3-acetylated DON chemotype was not detected. Compared with a previous report from the Netherlands (3), the nivalenol chemotype in Luxembourg is less frequent and widespread. To our knowledge, this is the first report of the nivalenol chemotype of F. graminearum causing head blight on wheat in Luxembourg. References:(1) T. Demeke et al. Int. J. Food Microbiol. 103:271, 2005. (2) F. Giraud et al. Plant Dis. 92:1587, 2008. (3) C. Waalwijk et al. Eur. J. Plant Pathol. 109:743, 2003. (4) T. J. Ward et al. Fung. Genet. Biol. 45:473, 2008.

11.
G Ital Nefrol ; 26 Suppl 49: S11-7, 2009.
Artigo em Italiano | MEDLINE | ID: mdl-19941273

RESUMO

Secondary hyperparathyroidism is a complex metabolic alteration secondary to chronic kidney disease (CKD). Reduction of 1,25(OH)2D3 synthesis is the first derangement, followed by an increase in PTH, and, lastly, calcium and phosphate modifications. Vitamin D is a hormone whose actions take place through a specific receptor, the vitamin D receptor (VDR), which is ubiquitous. Accordingly, heterogeneous biological effects can be added to the classical effects on mineral bone metabolism. In the pathophysiology of secondary hyperparathyroidism, an important role is also played by alterations of calcium transport, which is under the control of two receptors: VDR and CaSR (calcium-sensing receptor). The expression of these receptors is reduced during CKD. Recent findings have allowed to identify a new hormonal system, the FGF23-Klotho axis, that integrates the old and simple, but now inadequate, PTH-Vit D axis. FGF23 is a circulating factor produced by osteocytes that inhibits renal phosphate reabsorption and 1-alpha-hydroxylase activity. As such, FGF23 is involved in phosphate homeostasis and its serum levels increase along with the progression of CKD. Interestingly, FGF23 has very low affinity for its receptor and requires the activity of Klotho, an anti-aging gene, to become active. These new actors allow us to identify a bone-kidney axis, whose real physiological importance is still under evaluation.


Assuntos
Fatores de Crescimento de Fibroblastos/sangue , Glucuronidase/sangue , Hiperparatireoidismo Secundário/fisiopatologia , Biomarcadores/sangue , Cálcio/sangue , Doença Crônica , Fator de Crescimento de Fibroblastos 23 , Humanos , Hiperparatireoidismo Secundário/sangue , Hiperparatireoidismo Secundário/enzimologia , Hiperparatireoidismo Secundário/etiologia , Hiperparatireoidismo Secundário/metabolismo , Nefropatias/complicações , Proteínas Klotho , Hormônio Paratireóideo/sangue , Fosfatos/sangue , Receptores de Calcitriol/sangue , Receptores de Detecção de Cálcio/sangue
12.
G Ital Nefrol ; 26 Suppl 46: 53-7, 2009.
Artigo em Italiano | MEDLINE | ID: mdl-19644819

RESUMO

Exposure of the skin to sunlight is now considered the most important source of vitamin D in Western countries. It is presumed to contribute approximately two thirds of the total requirement, leaving the remaining one third to the few foods naturally rich in this vitamin. In the skin, vitamin D is synthesized as a cholesterol chain which undergoes structural modifications following exposure to UVB rays. Once produced in the skin or absorbed in the gut as cholecalciferol, vitamin D enters the blood to be transported by a specific vitamin D binding protein, which is synthesized in the liver and has a powerful buffering capacity. The transport system carries the metabolites to the sites of further activation (25-hydroxylation in the liver and 1alpha-hydroxylation in the kidney), ultimately resulting in the production of calcitriol. This last compound, now regarded as a hormone, circulates freely in minimal amounts and, compared with the other metabolites, shows the highest affinity for the vitamin D receptor (VDR). The mechanism of VDR activation is rather complex, resulting in either stimulation or inhibition of protein synthesis. Importantly, besides its presence in parathyroid, bone, kidney and intestine, this receptor has been demonstrated in several tissues, where its stimulation results in a reduced proliferation rate and increased differentiation. Accordingly, vitamin D is now regarded as a complex hormonal system, involved not only in the regulation of divalent ions and bone, but also in the proliferation and differentiation of numerous cell types with potential involvement in several diseases like cancer, immune diseases, diabetes, hypertension and heart failure.


Assuntos
Vitamina D/fisiologia , Humanos
13.
Phys Med Biol ; 63(18): 185021, 2018 09 19.
Artigo em Inglês | MEDLINE | ID: mdl-30229740

RESUMO

Evaluation of the radioisotopic purity of technetium-99m (99mTc) produced in GBq amounts by proton bombardment of enriched molibdenum-100 (100Mo) metallic targets at low proton energies (i.e. within 15-20 MeV) is conducted. This energy range was chosen since it is easily achievable by many conventional medical cyclotrons already available in the nuclear medicine departments of hospitals. The main motivation for such a study is in the framework of the research activities at the international level that have been conducted over the last few years to develop alternative production routes for the most widespread radioisotope used in medical imaging. The analysis of technetium isotopes and isomeric states (9xTc) present in the pertechnetate saline Na99mTcO4 solutions, obtained after the extraction/purification procedure, reveals radionuclidic purity levels basically in compliance with the limits recently issued by European Pharmacopoeia 9.3 (2018 Sodium pertechnetate (99mTc) injection 4801-3). Moreover, the impact of 9xTc contaminant nuclides on the final image quality is thoroughly evaluated, analyzing the emitted high-energy gamma rays and their influence on the image quality. The spatial resolution of images from cyclotron-produced 99mTc acquired with a mini-gamma camera was determined and compared with that obtained using technetium-99m solutions eluted from standard 99Mo/99mTc generators. The effect of the increased image background contribution due to Compton-scattered higher-energy gamma rays (E γ > 200 keV), which could cause image-contrast deterioration, was also studied. It is concluded that, due to the high radionuclidic purity of cyclotron-produced 99mTc using 100Mo(p,2n)99mTc reaction at a proton beam energy in the range 15.7-19.4 MeV, the resulting image properties are well comparable with those from the generator-eluted 99mTc.


Assuntos
Compostos Radiofarmacêuticos/normas , Tecnécio/normas , Ciclotrons , Isótopos/química , Molibdênio/química , Prótons , Compostos Radiofarmacêuticos/química , Pertecnetato Tc 99m de Sódio/química , Tecnécio/química
14.
J Inherit Metab Dis ; 30(5): 818, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17876724

RESUMO

Newborn screening can identify patients with classical galactosaemia, and their diagnosis needs to be confirmed with assay of the activity of galactose-1-phosphate uridyltransferase (GALT). Unfortunately, in many cases the results can be ambiguous and further testing is required. Here we report a combination of biochemical analysis of GALT enzyme activity and mutation analysis of the most common mutations in the corresponding gene. Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L). Mutation detection accorded with biochemical analysis in 93% of samples. Subsequently, a total of 34 samples with either discordant results between the above methods or low enzyme activity were fully sequenced, identifying previously reported pathogenic mutations and seven novel variations (p.P185H, p.R201C, p.E220K, p.R223S, p.I278N, p.L289F and p.L218X) in the GALT gene. This approach further increased concordance between genetic and biochemical analysis to 99% of all alleles tested. Our results indicate that DNA testing can help to verify biochemical enzymatic data and improve distinction of borderline enzyme activities where a patient may still benefit from treatment.


Assuntos
Análise Mutacional de DNA , Galactosemias/diagnóstico , Testes Genéticos , Mutação , Reação em Cadeia da Polimerase , Polimorfismo Genético , UTP-Hexose-1-Fosfato Uridililtransferase/genética , Alelos , Galactosemias/enzimologia , Galactosemias/genética , Humanos , Valor Preditivo dos Testes , UTP-Hexose-1-Fosfato Uridililtransferase/metabolismo
15.
J Inherit Metab Dis ; 30(6): 910-5, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17912613

RESUMO

Phenylketonuria is an autosomal recessive disorder characterized by elevated concentrations of phenylalanine. Elevated phenylalanine concentrations can impair intellectual functions and the disease is treated with a lifelong diet and frequent monitoring of plasma phenylalanine concentrations. Previous in vitro studies have demonstrated the feasibility of iontophoretically enhanced transdermal transport of phenylalanine. Here we evaluate the feasibility of transdermal iontophoretic extraction of phenylalanine in vivo. Phenylalanine was iontophoretically extracted from the skin of healthy volunteers and of patients with phenylketonuria for up to 6 h and concentrations were compared with those measured in plasma. The amount of phenylalanine iontophoretically extracted from the skin declined over time, suggesting contribution of phenylalanine from the skin in the initial extraction. Phenylalanine iontophoretically extracted from skin correlated with plasma phenylalanine levels at plasma levels above 300 micromol/L. This correlation supports the feasibility of iontophoretic phenylalanine extraction for monitoring phenylketonuria.


Assuntos
Iontoforese/instrumentação , Iontoforese/métodos , Fenilalanina/sangue , Fenilalanina/metabolismo , Fenilcetonúrias/sangue , Fenilcetonúrias/diagnóstico , Fenilcetonúrias/metabolismo , Transporte Biológico , Estudos de Casos e Controles , Cromatografia Líquida de Alta Pressão/métodos , Desenho de Equipamento , Humanos , Espectrometria de Massas/métodos , Reprodutibilidade dos Testes , Pele/metabolismo
17.
Artigo em Inglês | MEDLINE | ID: mdl-16689184

RESUMO

Even though chronic cough (CC) is a bothersome symptom, only a small number of studies have evaluated its specific burden on health-related quality of life (HRQL). The aim of the present study was to assess how the presence of CC interferes with HRQL. A total of 95 outpatients were enrolled during medical consultation at our "Chronic Cough Center". A health status measure (SF-36) and a new HRQL questionnaire specific for CC (CCIQ) were administered before the initial visit. Compared to the reference sample, CC patients reported significantly lower scores in 5 of 8 SF-36 domains: Social functioning (t=10.292), Physical role limitation (t=9.667), Emotional role limitation (t=7.712), General health (t=5.154) and Vitality (t=4.426). The analysis of CCIQ scores showed a disability due to CC, independent of its etiology. The greatest disabilities were observed in the Social relationship (58.33) domain, followed by Sleep/Concentration (54.26), Mood (51.49) and Daily activities (47.69). Sleep, disturbing the partner, and irritability were the three outstanding aspects, affecting 80% of patients. These results show that CC has a high negative impact on HRQL, and they further suggest that the CCIQ is a useful tool for obtaining a global evaluation including its impact and therapeutic options.


Assuntos
Tosse/psicologia , Qualidade de Vida , Inquéritos e Questionários , Afeto , Asma/complicações , Asma/psicologia , Doença Crônica/psicologia , Tosse/etiologia , Feminino , Refluxo Gastroesofágico/complicações , Refluxo Gastroesofágico/psicologia , Humanos , Relações Interpessoais , Masculino , Doenças Nasais/complicações , Doenças Nasais/psicologia , Doença Pulmonar Obstrutiva Crônica/complicações , Doença Pulmonar Obstrutiva Crônica/psicologia , Sono
18.
Clin Ter ; 157(4): 327-32, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-17051969

RESUMO

BACKGROUND: Recent guidelines for the management of hypertension by the European Societies of Hypertension and Cardiology (ESH-ESC), consider, besides normal and normal high blood pressure, also early renal failure as a significant factor scoring the individual cardiovascular (CV) risk in each patient. Considering that the nephrologists have not yet adopted a similar system to score CV risk in renal failure, we believed reasonable to evaluate whether the ESH-ESC guidelines were applicable to renal patients and to what extent useful to estimate the CV risk in chronic renal disease. PATIENTS AND METHODS: According to the above-mentioned guidelines, CV risk score was evaluated in 386 ambulatory patients (212 M/174 F; aged 53 +/- 15 years) with the following clinical diagnosis: hypertension (n=48), lithiasis (n=49), chronic renal failure (n=182), transplantation (n=61) and dialysis (n=46). RESULTS: We obtained a "no score" group and five progressive risk classes graded from 1 to 5. Infact thirthyfour cases were not scored because of "optimal" blood pressure control, whilst the remaining 352 averaged a score of 3.9 +/- 1.1 ("high" CV risk condition). In these, all the scores were present and the distribution of cases evidenced a prevailing of score 4 and 5 in chronic renal failure (19 and 52% of the cases, respectively) and in transplantation (26% and 39%), but not in hypertension and lithiasis. In dialysis, only score 4 and 5 (35% and 59% respectively) occurred, while 4 cases (6%) were not scored due to "optimal" blood pressure values. Target organ damage, acquired clinical conditions, modifiable and non-modifiable risk factors had all a positive correlation with the risk score. CONCLUSIONS: Our study suggests that ESH-ESC guidelines for the management of hypertension can be used to obtain a global CV risk score also in chronic kidney diseases, with the exception of dialysis. In chronic renal failure, the risk of underestimating the real incidence of future CV events might be overcome, at least partially, by the possibility of highlighting in individual patients the concomitance of risk factors requiring a very early preventive and aggressive therapy.


Assuntos
Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/etiologia , Fidelidade a Diretrizes , Hipertensão/complicações , Hipertensão/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco
19.
J Proteomics ; 137: 107-16, 2016 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-26585460

RESUMO

Plant pathogens face different environmental clues depending on the stage of the infection cycle they are in. Fusarium graminearum infects small grain cereals producing trichothecenes type B (TB) that act as virulence factor in the interaction with the plant and have important food safety implications. This study addresses at the proteomic level the effect of an environmental stimulus (such as the presence of a polyamine like agmatine) possibly encountered by the fungus when it is already within the plant. Because biological diversity affects the proteome significantly, a multistrain (n=3) comparative approach was used to identify consistent effects caused on the fungus by the nitrogen source (agmatine or glutamic acid). Proteomics analyses were performed by the use of 2D-DIGE. Results showed that agmatine augmented TB production but not equally in all strains. The polyamine reshaped drastically the proteome of the fungus activating specific pathways linked to the translational control within the cell. Chromatin restructuring, ribosomal regulations, protein and mRNA processing enzymes were modulated by the agmatine stimulus as well as metabolic, structural and virulence-related proteins, suggesting the need to reshape specifically the fungal cell for TB production, a key step for the pathogen spread within the spike. BIOLOGICAL SIGNIFICANCE: Induction of toxin synthesis by plant compounds plays a crucial role in toxin contamination of food and feed, in particular trichothecenes type B produced mainly by F. graminearum on wheat. This work describes the level of diversity of 3 strains facing 2 toxin inducing plant derived compounds. This knowledge is of use for the research community on toxigenic Fusarium strains in cereals for understanding the role of fungal diversity in toxin inducibility. This work also suggests that environmental clues that can be found within the plant during infection (like different nitrogen compounds) are crucial stimuli for reshaping the proteome profile and consequently the specialization profiling of the fungus, ultimately leading to very different toxin contamination levels in the plant.


Assuntos
Proteínas Fúngicas/biossíntese , Fusarium/metabolismo , Proteoma/biossíntese , Proteômica , Especificidade da Espécie , Tricotecenos/biossíntese
20.
Heliyon ; 2(9): e00163, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27699284

RESUMO

A sustainable economy can be achieved only by assessing processes finalized to optimize the use of resources. Waste can be a relevant source of energy thanks to energy-from-waste processes. Concerns regarding the toxic fly ashes can be solved by transforming them into resource as recycled materials. The commitment to recycle is driven by the need to conserve natural resources, reduce imports of raw materials, save landfill space and reduce pollution. A new method to stabilize fly ash from Municipal Solid Waste Incinerator (MSWI) at room temperature has been developed thanks to COSMOS-RICE LIFE+ project (www.cosmos-rice.csmt.eu). This process is based on a chemical reaction that occurs properly mixing three waste fly ashes with rice husk ash, an agricultural by-product. COSMOS inert can replace critical raw materials (i.e. silica, fluorspar, clays, bentonite, antimony and alumina) as filler. Moreover the materials employed in the stabilization procedure may be not available in all areas. This paper investigates the possibility of substituting silica fume with corresponding condensed silica fume and to substitute flue-gas desulfurization (FGD) residues with low-cost calcium hydroxide powder. The removal of coal fly ash was also considered. The results will be presented and a possible substitution of the materials to stabilize fly ash will be discussed.

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