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1.
Curr Psychiatry Rep ; 26(7): 379-393, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38833148

RESUMO

PURPOSE OF REVIEW: The assessment of the risk of triggering psychosis upon exposure to grief is a challenge in clinical practice. Adequate diagnosis and early prevention are essential and may be helpful in the evolution of normal grief. We aimed to identify studies exploring grief as a risk factor for developing psychosis. RECENT FINDINGS: A systematic review of 3 databases (PubMed, EMBASE, and Cochrane Library) was conducted. RESULTS: In the first approach 618 studies were identified. After the selection process, 15 studies were included in the review. The association between grief and the risk of developing psychosis occurred at younger ages (before 18 years of age) in a first-degree relative and as a consequence of suicide or accidental death. We found that risk factors such as comorbidity, mental problems, unemployment, economic difficulties, and close ties with the deceased have a negative impact on health causing greater vulnerability to psychosis with a risk of developing complicated grief, with statistically significant results regarding the associations between early parental death and the probability of developing psychosis in adulthood.


Assuntos
Pesar , Transtornos Psicóticos , Humanos , Transtornos Psicóticos/psicologia , Fatores de Risco
2.
Bioinformatics ; 37(11): 1610-1612, 2021 07 12.
Artigo em Inglês | MEDLINE | ID: mdl-33079985

RESUMO

MOTIVATION: Sequence analyses oriented to investigate specific features, patterns and functions of protein and DNA/RNA sequences usually require tools based on graphic interfaces whose main characteristic is their intuitiveness and interactivity with the user's expertise, especially when curation or primer design tasks are required. However, interface-based tools usually pose certain computational limitations when managing large sequences or complex datasets, such as genome and transcriptome assemblies. Having these requirments in mind we have developed SeqEditor an interactive software tool for nucleotide and protein sequences' analysis. RESULT: SeqEditor is a cross-platform desktop application for the analysis of nucleotide and protein sequences. It is managed through a Graphical User Interface and can work either as a graphical sequence browser or as a fasta task manager for multi-fasta files. SeqEditor has been optimized for the management of large sequences, such as contigs, scaffolds or even chromosomes, and includes a GTF/GFF viewer to visualize and manage annotation files. In turn, this allows for content mining from reference genomes and transcriptomes with similar efficiency to that of command line tools. SeqEditor also incorporates a set of tools for singleplex and multiplex PCR primer design and pooling that uses a newly optimized and validated search strategy for target and species-specific primers. All these features make SeqEditor a flexible application that can be used to analyses complex sequences, design primers in PCR assays oriented for diagnosis, and/or manage, edit and personalize reference sequence datasets. AVAILABILITYAND IMPLEMENTATION: SeqEditor was developed in Java using Eclipse Rich Client Platform and is publicly available at https://gpro.biotechvana.com/download/SeqEditor as binaries for Windows, Linux and Mac OS. The user manual and tutorials are available online at https://gpro.biotechvana.com/tool/seqeditor/manual. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.


Assuntos
Genoma , Software , Sequência de Aminoácidos , Humanos , Análise de Sequência , Análise de Sequência de Proteína
3.
Clin Gerontol ; 45(5): 1294-1303, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-32496935

RESUMO

Objectives: Family caregivers of people with dementia often report feelings of guilt. However, the number of studies analyzing guilt and the factors associated with its appearance are scarce. The aim of this study is to explore the subjective experience of guilt in the family care of people with dementia.Methods: A qualitative analysis of the narratives of 13 family caregivers of people with dementia about their feelings of guilt was done.Results: Seven categories for understanding guilt in caregiving were obtained: guilt derived from actions themselves; guilt derived from one's limitations; guilt for feeling negative emotions; guilt associated with the change in the relationship with the person cared for; guilt for neglecting other areas; guilt induced by the person cared for, and guilt induced by others. The results showed the existence of cases in which guilt is absent by distress-avoiding processes.Conclusions: Guilt is a relevant variable in understanding caregiver distress, and its analysis is necessary for therapeutic work in the field of care.Clinical implications: Psychological interventions aimed at family caregivers should include specific techniques in order to address guilt feelings.


Assuntos
Cuidadores , Demência , Cuidadores/psicologia , Demência/psicologia , Emoções , Culpa , Humanos
4.
Appl Microbiol Biotechnol ; 105(16-17): 6515-6527, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34423412

RESUMO

Pharmaceuticals find their way to the aquatic environment via wastewater treatment plants (WWTPs). Biotransformation plays an important role in mitigating environmental risks; however, a mechanistic understanding of involved processes is limited. The aim of this study was to evaluate potential relationships between first-order biotransformation rate constants (kb) of nine pharmaceuticals and initial concentration of the selected compounds, and sampling season of the used activated sludge inocula. Four-day bottle experiments were performed with activated sludge from WWTP Groesbeek (The Netherlands) of two different seasons, summer and winter, spiked with two environmentally relevant concentrations (3 and 30 nM) of pharmaceuticals. Concentrations of the compounds were measured by LC-MS/MS, microbial community composition was assessed by 16S rRNA gene amplicon sequencing, and kb values were calculated. The biodegradable pharmaceuticals were acetaminophen, metformin, metoprolol, terbutaline, and phenazone (ranked from high to low biotransformation rates). Carbamazepine, diatrizoic acid, diclofenac, and fluoxetine were not converted. Summer and winter inocula did not show significant differences in microbial community composition, but resulted in a slightly different kb for some pharmaceuticals. Likely microbial activity was responsible instead of community composition. In the same inoculum, different kb values were measured, depending on initial concentration. In general, biodegradable compounds had a higher kb when the initial concentration was higher. This demonstrates that Michealis-Menten kinetic theory has shortcomings for some pharmaceuticals at low, environmentally relevant concentrations and that the pharmaceutical concentration should be taken into account when measuring the kb in order to reliably predict the fate of pharmaceuticals in the WWTP. KEY POINTS: • Biotransformation and sorption of pharmaceuticals were assessed in activated sludge. • Higher initial concentrations resulted in higher biotransformation rate constants for biodegradable pharmaceuticals. • Summer and winter inocula produced slightly different biotransformation rate constants although microbial community composition did not significantly change.


Assuntos
Preparações Farmacêuticas , Poluentes Químicos da Água , Biotransformação , Cromatografia Líquida , RNA Ribossômico 16S/genética , Esgotos , Espectrometria de Massas em Tandem , Poluentes Químicos da Água/análise
5.
J Microencapsul ; 38(6): 365-380, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34278940

RESUMO

AIM: Evaluate the stability of microparticles loaded with fish oil produced by spray drying, spray chilling and by the combination of these techniques (double-shell) and use the microparticles for food application. METHODS: Samples were stored for 180 days at 6 °C and 24 °C (75% RH). Performed investigations included encapsulation efficiency, moisture content, aw, size (laser scattering), colour (L*, a*, b*), polyunsaturated fatty acids (PUFAs) (GC), thermal behaviour (DSC) and crystalline structure (XRD). RESULTS: Double-shell microparticles containing 26 wt% core material, 22.74 ± 0.02 µm (D0.5) and 2.05 ± 0.03 span index, 1.262 ± 0.026 wt% moisture content and 0.240 ± 0.001 of aw had PUFAs retention higher than 90 wt% during storage at 6 °C without changes in crystalline structure (ß'-type crystals) and melting temperature (54 °C). The sensory evaluation suggested low fish oil release in oral phase digestion. CONCLUSIONS: Double-shell microparticles were effective to protect and deliver PUFAs.


Assuntos
Cápsulas , Óleos de Peixe , Excipientes , Temperatura
6.
Bioorg Chem ; 85: 75-81, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30602129

RESUMO

Quorum sensing (QS) regulates population-dependent bacterial behaviours, such as toxin production, biofilm formation and virulence. Autoinducer-2 (AI-2) is to date the only signalling molecule known to foster inter-species bacterial communication across distantly related bacterial species. In this work, the synthesis of pure enantiomers of C4-propoxy-HPD and C4-ethoxy-HPD, known AI-2 analogues, has been developed. The optimised synthesis is efficient, reproducible and short. The (4S) enantiomer of C4-propoxy-HPD was the most active compound being approximately twice as efficient as (4S)-DPD and ten-times more potent than the (4R) enantiomer. Additionally, the specificity of this analogue to bacteria with LuxP receptors makes it a good candidate for clinical applications, because it is not susceptible to scavenging by LsrB-containing bacteria that degrade the natural AI-2. All in all, this study provides a new brief and effective synthesis of isomerically pure analogues for QS modulation that include the most active AI-2 agonist described so far.


Assuntos
Antibacterianos/farmacologia , Pentanonas/farmacologia , Percepção de Quorum/efeitos dos fármacos , Antibacterianos/síntese química , Antibacterianos/metabolismo , Proteínas de Bactérias/metabolismo , Proteínas de Transporte/metabolismo , Escherichia coli/fisiologia , Proteínas de Escherichia coli/metabolismo , Pentanonas/síntese química , Pentanonas/metabolismo , Estereoisomerismo , Vibrio/fisiologia
7.
J Infect Dis ; 218(1): 165-170, 2018 06 05.
Artigo em Inglês | MEDLINE | ID: mdl-29618104

RESUMO

Cellular metabolism can influence host immune responses to Mycobacterium tuberculosis. Using a systems biology approach, differential expression of 292 metabolic genes involved in glycolysis, glutathione, pyrimidine, and inositol phosphate pathways was evident at the site of a human tuberculin skin test challenge in patients with active tuberculosis infection. For 28 metabolic genes, we identified single nucleotide polymorphisms that were trans-acting for in vitro cytokine responses to M. tuberculosis stimulation, including glutathione and pyrimidine metabolism genes that alter production of Th1 and Th17 cytokines. Our findings identify novel therapeutic targets in host metabolism that may shape protective immunity to tuberculosis.


Assuntos
Citocinas/metabolismo , Metabolismo/genética , Mycobacterium tuberculosis/imunologia , Células Th1/metabolismo , Células Th17/metabolismo , Tuberculose/patologia , Adulto , Feminino , Perfilação da Expressão Gênica , Humanos , Masculino , Biologia de Sistemas/métodos , Adulto Jovem
8.
Angew Chem Int Ed Engl ; 58(33): 11306-11310, 2019 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-31187581

RESUMO

Magnetic heating has recently been demonstrated as an efficient way to perform catalytic reactions after deposition of the heating agent and the catalyst on a support. Here we show that in solution, and under mild conditions of mean temperature and pressure, it is possible to use magnetic heating to carry out transformations that are otherwise performed heterogeneously at high pressure and/or high temperature. As a proof of concept, we chose the hydrodeoxygenation of acetophenone derivatives and of biomass-derived molecules, namely furfural and hydroxymethylfurfural. These reactions are difficult, require heterogeneous catalysts and high pressures, and, to the best of our knowledge, have no precedent in standard solution. Here, hydrodeoxygenations are fully selective under mild conditions (3 bar H2 , moderate mean temperature of the solvent). The reason for this reactivity is the fast heating of the particles well above the boiling temperature of the solvent and the local creation of hot spots surrounded by a vapor layer, in which high temperature and pressure may be present. This technology may be practicable for many organic transformations.

9.
PLoS Genet ; 10(7): e1004488, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25058410

RESUMO

We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in order to evaluate admixture using uniparental markers. Finally, we analyzed the association of 16 single nucleotide polymorphisms (SNPs) with quantitative estimates of skin pigmentation. In the total sample, the average European, African and Native American contributions as estimated from autosomal AIMs were 72%, 20% and 8%, respectively. The Eastern provinces of Cuba showed relatively higher African and Native American contributions than the Western provinces. In particular, the highest proportion of African ancestry was observed in the provinces of Guantánamo (40%) and Santiago de Cuba (39%), and the highest proportion of Native American ancestry in Granma (15%), Holguín (12%) and Las Tunas (12%). We found evidence of substantial population stratification in the current Cuban population, emphasizing the need to control for the effects of population stratification in association studies including individuals from Cuba. The results of the analyses of uniparental markers were concordant with those observed in the autosomes. These geographic patterns in admixture proportions are fully consistent with historical and archaeological information. Additionally, we identified a sex-biased pattern in the process of gene flow, with a substantially higher European contribution from the paternal side, and higher Native American and African contributions from the maternal side. This sex-biased contribution was particularly evident for Native American ancestry. Finally, we observed that SNPs located in the genes SLC24A5 and SLC45A2 are strongly associated with melanin levels in the sample.


Assuntos
Fluxo Gênico/genética , Genética Populacional , Haplótipos/genética , Pigmentação/genética , População Negra/genética , Cromossomos Humanos Y/genética , Cuba , DNA Mitocondrial/genética , Hispânico ou Latino/genética , Humanos , Indígenas Norte-Americanos/genética , Polimorfismo de Nucleotídeo Único/genética , População Branca/genética
10.
Mycorrhiza ; 27(6): 565-576, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28547294

RESUMO

Seasonal dynamics of black truffle (Tuber melanosporum) extraradical mycelium as well as the associated mycorrhizal community have been evaluated in a 16-year-old plantation with productive and non-productive trees. Mycelium biomass was seasonally quantified by real-time PCR over two consecutive years and the correlation with environmental variables explored. Extraradical mycelium biomass varied seasonally and between the two consecutive years, being correlated with the precipitation that occurred 1 month before sampling. In addition, productive trees had more mycelium in the brûlé area than non-productive trees did. The ectomycorrhizal community composition inside the burnt areas was seasonally evaluated during a year. Ten mycorrhizal morphotypes were detected; T. melanosporum was the most abundant in productive and non-productive trees. Black truffle mycorrhizas were more abundant (mycorrhizal tips per unit of soil volume) in productive trees, and no seasonal variation was observed. The occurrence of black truffle mycorrhizas was significantly and positively correlated with the biomass of extraradical mycelium. The mycorrhizal community within the brûlé areas was significantly different between productive and non-productive trees, and no variation was detected between seasons. The assessment of the fungal vegetative structures in a mature plantation is of paramount importance to develop trufficulture methods based on the knowledge of the biological cycle of the fungus and its relationships with the associated ectomycorrhizal communities.


Assuntos
Ascomicetos/crescimento & desenvolvimento , Micorrizas/fisiologia , Estações do Ano , Microbiologia do Solo , Micélio/crescimento & desenvolvimento
11.
Bioinformatics ; 31(19): 3228-30, 2015 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-26040457

RESUMO

UNLABELLED: Genomic technologies allow laboratories to produce large-scale data sets, either through the use of next-generation sequencing or microarray platforms. To explore these data sets and obtain maximum value from the data, researchers view their results alongside all the known features of a given reference genome. To study transcriptional changes that occur under a given condition, researchers search for regions of the genome that are differentially expressed between different experimental conditions. In order to identify these regions several algorithms have been developed over the years, along with some bioinformatic platforms that enable their use. However, currently available applications for comparative microarray analysis exclusively focus on changes in gene expression within known transcribed regions of predicted protein-coding genes, the changes that occur in non-predictable genetic elements, such as non-coding RNAs. Here, we present a web application for the visualization of strand-specific tiling microarray or next-generation sequencing data that allows customized detection of differentially expressed regions all along the genome in an unspecific manner, that allows identification of all RNA sequences, predictable or not. AVAILABILITY AND IMPLEMENTATION: The web application is freely accessible at http://tilingscan.uv.es/. TilingScan is implemented in PHP and JavaScript. CONTACT: vicente.arnau@uv.es SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.


Assuntos
Biologia Computacional/métodos , Gráficos por Computador , DNA/química , Perfilação da Expressão Gênica , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Internet , Análise de Sequência de DNA/métodos , Algoritmos , Genoma Humano , Genômica , Humanos
12.
Mycorrhiza ; 26(3): 227-36, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26458929

RESUMO

Truffles are edible hypogeous ascomycetes highly appreciated worldwide, especially the black truffle (Tuber melanosporum Vittad.). In recent decades, the cultivation of the black truffle has expanded across the Mediterranean climate regions in and outside its native range. Members of the Thelephoraceae (Thelephorales, Agaricomycetes, Basidiomycota) are commonly found in truffle plantations, but their co-occurrence with Tuber species and other members of the fungal community has been scarcely reported. Thelephoraceae is one of the most represented families of the ectomycorrhizal fungal community in boreal and Mediterranean forests. To reveal the diversity of these fungi in T. melanosporum-cultivated plantations, ten orchards located in the Navarra region (Northern Spain) were surveyed for 2 years. Morphological and molecular approaches were used to detect and identify the Thelephoraceae ectomycorrhizas present in those plantations. Ten different mycorrhizal types were detected and described. Four of them were morphologically identified as Tomentella galzinii, Quercirhiza cumulosa, Q. squamosa, and T39 Thelephoraceae type. Molecular analyses revealed 4-6 operational taxonomic units (OTUs), depending on the nucleotide database used, but similarities remained under 95 % and no clear species assignments could be done. The results confirm the diversity and abundance of this fungal family in the ectomycorrhizal community of black truffle plantations, generally established in Mediterranean areas. The occurrence and relative abundance of Thelephoraceae ectomycorrhizas is discussed in relation to their possible influence on truffle production.


Assuntos
Ascomicetos/fisiologia , Basidiomycota/classificação , Basidiomycota/isolamento & purificação , Biodiversidade , Micorrizas/classificação , Micorrizas/isolamento & purificação , Sequência de Bases , Basidiomycota/genética , DNA Fúngico/análise , DNA Fúngico/genética , DNA Ribossômico/análise , DNA Ribossômico/genética , Florestas , Região do Mediterrâneo , Micorrizas/genética , Filogenia , Microbiologia do Solo , Espanha
13.
BMC Genomics ; 16: 131, 2015 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-25887241

RESUMO

BACKGROUND: Guatemala is a multiethnic and multilingual country located in Central America. The main population groups separate 'Ladinos' (mixed Native American-African-Spanish), and Native indigenous people of Maya descent. Among the present-day Guatemalan Maya, there are more than 20 different ethnic groups separated by different languages and cultures. Genetic variation of these communities still remains largely unexplored. The principal aim of this study is to explore the genetic variability of the Maya and 'Ladinos' from Guatemala by means of uniparental and ancestry informative markers (AIMs). RESULTS: Analyses of uniparental genetic markers indicate that Maya have a dominant Native American ancestry (mitochondrial DNA [mtDNA]: 100%; Y-chromosome: 94%). 'Ladino', however, show a clear gender-bias as indicated by the large European ancestry observed in the Y-chromosome (75%) compared to the mtDNA (0%). Autosomal polymorphisms (AIMS) also mirror this marked gender-bias: (i) Native American ancestry: 92% for the Maya vs. 55% for the 'Ladino', and (ii) European ancestry: 8% for the Maya vs. 41% for the 'Ladino'. In addition, the impact of the Trans-Atlantic slave trade on the present-day Guatemalan population is very low (and only occurs in the 'Ladino'; mtDNA: 9%; AIMS: 4%), in part mirroring the fact that Guatemala has a predominant orientation to the Pacific Ocean instead of a Caribbean one. Sequencing of entire Guatemalan mitogenomes has led to improved Native American phylogeny via the addition of new haplogroups that are mainly observed in Mesoamerica and/or the North of South America. CONCLUSIONS: The data reveal the existence of a fluid gene flow in the Mesoamerican area and a predominant unidirectional flow towards South America, most likely occurring during the Pre-Classic (1800 BC-200 AD) and the Classic (200-1000 AD) Eras of the Mesoamerican chronology, coinciding with development of the most distinctive and advanced Mesoamerican civilization, the Maya. Phylogenetic features of mtDNA data also suggest a demographic scenario that is compatible with moderate local endogamy and isolation in the Maya combined with episodes of gene exchange between ethnic groups, suggesting an ethno-genesis in the Guatemalan Maya that is recent and supported on a cultural rather than a biological basis.


Assuntos
Etnicidade/genética , Genoma Humano , Cromossomos Humanos Y/genética , DNA Mitocondrial/análise , DNA Mitocondrial/classificação , DNA Mitocondrial/genética , DNA Mitocondrial/isolamento & purificação , Frequência do Gene , Genética Populacional , Guatemala , Haplótipos , Humanos , Filogenia , Polimorfismo de Nucleotídeo Único , Análise de Componente Principal , Análise de Sequência de DNA
14.
BMC Womens Health ; 15: 20, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25783652

RESUMO

BACKGROUND: The objectives of this study were to determine the effectiveness the effectiveness of post-polypectomy hysteroscopic endometrial resection in preventing the recurrence of endometrial polyps in post-menopausal patients and analyse the complications and necessity of additional surgery in patients, in addition to their degree of satisfaction. METHODS: A prospective longitudinal study of post-menopausal patients diagnosed with endometrial polyps was conducted including polypectomy and hysteroscopic endometrial resection following the therapeutic purposes (endometrial polyp removal) and prevention of recurrence of endometrial polyps. We evaluated the general condition and characteristics of the patients, including age, BMI, smoking habits, medical, surgical, and obstetrics history and menstrual status. The results were analysed at several time points, 6, 18, 42 and 60 months by hysteroscopy, including the presence of vaginal bleeding and/or possible intracavitary pathology. RESULTS: A total of 89.5% (n = 355) of our patients had profile factors associated with the increased incidence of endometrial polyps and hyperestrogenism (diabetes mellitus, hypertension and overweight); 89.5% (n = 355) of patients were overweight; 34% had grade I obesity. The surgical procedure was safe, with a 90% (n = 357) success rate without complications, which was higher than the 95-99.5% at the beginning and end time points of the study. Patient acceptance and satisfaction was 90 and 84%, respectively. CONCLUSIONS: Endometrial resection proved effective in preventing the recurrence of endometrial polyps. It is a safe and effective method. Post-menopausal bleeding reduces the presence of endometrial polyps. Patients reported satisfaction and acceptance of the procedure.


Assuntos
Histeroscopia/métodos , Pólipos/cirurgia , Doenças Uterinas/cirurgia , Estudos de Coortes , Comorbidade , Diabetes Mellitus/epidemiologia , Feminino , Humanos , Hipertensão/epidemiologia , Estudos Longitudinais , Pessoa de Meia-Idade , Obesidade/epidemiologia , Sobrepeso/epidemiologia , Pólipos/epidemiologia , Pós-Menopausa , Estudos Prospectivos , Recidiva , Resultado do Tratamento , Doenças Uterinas/epidemiologia
15.
Am J Med Genet B Neuropsychiatr Genet ; 168B(1): 54-65, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25349034

RESUMO

Certain mitochondrial DNA (mtDNA) variants and haplogroups have been found to be associated with neurological disorders. Several studies have suggested that mtDNA variation could have an etiologic role in these disorders by affecting the ATP production on high-energy demanding organs, such as the brain. We have analyzed 15 mtDNA SNPs (mtSNPs) in five cohorts of cases presenting Alzheimer disease (AD), Parkinson disease (PD), and migraine, and in controls, to evaluate the role mtDNA variation in disease risk. Association tests were undertaken both for mtSNPs and mitochondrial haplogroups. No significant association was detected for any mtSNP or haplogroup in AD and PD cohorts. Two mtSNPs were associated with one migraine cohort after correcting for multiple tests, namely, T4216C and G13708A and haplogroup J (FDR q-value = 0.02; Santiago's cohort). However, this association was not confirmed in a second replication migraine series. A review of the literature reveals the existence of inconsistent findings and methodological shortcomings affecting a large proportion of mtDNA association studies on AD, PD, and migraine. A detailed inspection of the literature highlights the need for performing more rigorous methodological and statistical standards in mtDNA genetic association studies aimed to avoid false positive results of association between mtDNA variants and neurological diseases.


Assuntos
Doença de Alzheimer/genética , DNA Mitocondrial/genética , Transtornos de Enxaqueca/genética , Mitocôndrias/genética , Doença de Parkinson/genética , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética , Espanha
16.
Biochim Biophys Acta ; 1829(11): 1248-55, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24103494

RESUMO

Elongation speed is a key parameter in RNA polymerase II (RNA pol II) activity. It affects the transcription rate, while it is conditioned by the physicochemical environment it works in at the same time. For instance, it is well-known that temperature affects the biochemical reactions rates. Therefore in free-living organisms that are able to grow at various environmental temperatures, such as the yeast Saccharomyces cerevisiae, evolution should have not only shaped the structural and functional properties of this key enzyme, but should have also provided mechanisms and pathways to adapt its activity to the optimal performance required. We studied the changes in RNA pol II elongation speed caused by alternations in growth temperature in yeast to find that they strictly follow the Arrhenius equation, and that they also provoke an almost inverse proportional change in RNA pol II density within the optimal growth temperature range (26-37 °C). Moreover, we discovered that yeast cells control the transcription initiation rate by changing the total amount of available RNA pol II.


Assuntos
RNA Polimerase II/metabolismo , Saccharomyces cerevisiae/metabolismo , Sequência de Bases , Western Blotting , Primers do DNA , Reação em Cadeia da Polimerase , Saccharomyces cerevisiae/enzimologia , Saccharomyces cerevisiae/crescimento & desenvolvimento , Temperatura , Transcrição Gênica
17.
Pharmacoepidemiol Drug Saf ; 23(3): 221-33, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24464938

RESUMO

PURPOSE: To perform a comprehensive and systematic review regarding ophthalmic adverse drug reactions (ADRs) to systemic drugs to: (i) systematically summarize existing evidence, (ii) identify areas, ophthalmic ADRs or drugs that lacked systematization or assessment (namely drugs with original studies characterizing specific ophthalmic ADRs but without causality assessment nor without meta-analysis). METHODS: Systematic review of several electronic databases (last search 1/7/2012): Medline, SCOPUS, ISI web of knowledge, ISI Conference Proceedings, International Pharmaceutical Abstracts and Google scholar. Search query included: eye, ocular, ophthalmic, ophthalmology, adverse and reaction. Inclusion criteria were: (i) Primary purpose was to assess an ophthalmic ADR to a systemic medication; (ii) Patient evaluation performed by an ophthalmologist; (iii) Studies that specified diagnostic criteria for an ocular ADR. Different types of studies were included and analyzed separately. Two independent reviewers assessed eligibility criteria, extracted data and evaluated risk of bias. RESULTS: From 562 studies found, 32 were included (1 systematic review to sildenafil, 11 narrative reviews, 1 trial, 1 prospective study, 6 transversal studies, 6 spontaneous reports and 6 case series). Drugs frequently involved included amiodarone, sildenafil, hydroxychloroquine and biphosphonates. Frequent ophthalmic ADRs included: keratopathy, dry eye and retinopathy. CONCLUSIONS: To increase evidence about ophthalmic ADRs, there is a need for performing specific systematic reviews, applying strictly the World Health Organization's (WHO) definition of ADR and WHO causality assessment of ADRs. Some ophthalmic ADRs may be frequent, but require ophthalmological examination; therefore, ophthalmologists' education and protocols of collaboration between other specialties whenever they prescribe high-risk drugs are suggestions for the future.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Oftalmopatias/induzido quimicamente , Oftalmopatias/epidemiologia , Animais , Carbamazepina/efeitos adversos , Difosfonatos/efeitos adversos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/diagnóstico , Oftalmopatias/diagnóstico , Humanos , Piperazinas/efeitos adversos , Purinas/efeitos adversos , Citrato de Sildenafila , Sulfonas/efeitos adversos
18.
Chemotherapy ; 60(5-6): 353-5, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-26330092

RESUMO

Dihydropyrimidine dehydrogenase (DPD) is a metabolic enzyme that is crucial in 5-fluorouracil (5-FU) degradation. A deficiency in it is associated with the occurrence of adverse events following fluoropyrimidine-based therapies. We describe a case of toxicity grade 5 after the administration of capecitabine and oxaliplatin in a patient with stage III colorectal cancer and DPD congenital deficiency, which was identified later. Several polymorphisms have been associated with the global toxicity of 5-FU; however, genetic tests are low in sensitivity and therefore they cannot as yet be used as prescreening techniques in clinical practice.


Assuntos
Antimetabólitos Antineoplásicos/efeitos adversos , Capecitabina/efeitos adversos , Deficiência da Di-Hidropirimidina Desidrogenase/induzido quimicamente , Deficiência da Di-Hidropirimidina Desidrogenase/diagnóstico , Idoso , Neoplasias do Colo/diagnóstico , Neoplasias do Colo/tratamento farmacológico , Evolução Fatal , Feminino , Humanos
19.
Mycorrhiza ; 24 Suppl 1: S5-18, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24424507

RESUMO

Since the first truffle plantations were established in France, Italy and other parts in the world, many studies have been carried out to improve their productivity and sustainability. Success of plantations is clearly related to the mycorrhizal status of the host trees over the years, from inoculated seedlings to truffle-producing trees. The experience gained in monitoring the ectomycorrhizal fungus status in cultivated truffle grounds has allowed us to develop an extensive catalogue of the ectomycorrhizal fungi present in truffle plantations. Herein, we summarize fungal community data from 85 references that represent different truffle studies in natural habitats and plantations. Approximately 25% of the ectomycorrhizae reported in the 85 references are common to most of the studies. In general, more fungal species are detected in productive plantations than in the non-productive ones. Truffle plantations display a diverse ectomycorrhizal fungal community, in which species of the genus Tuber are well represented. Tuber rufum and some members of Boletales are typically restricted to productive truffle plots. On the other hand, Hebeloma, Laccaria and Russula species are mostly associated with unproductive plots. Ectomycorrhizae belonging to Thelephoraceae are frequently found in mature truffle orchards but do not seem to affect sporocarp production. Several biotic and abiotic factors affect the ectomycorrhizal fungus communities associated with truffle orchards. Among them are plantation age, host species and its growth, the surrounding environment (particularly the presence of other ectomycorrhizal hosts), and plantation management. Understanding the ectomycorrhizal fungal communities inhabiting different plantations may give us clues about the dynamics of the targeted truffles and the possibility of identifying mycorrhizal fungal species that are good indicators of successful truffle plantations.


Assuntos
Ascomicetos/fisiologia , Micorrizas/fisiologia , Agricultura/métodos , Ascomicetos/classificação , Ascomicetos/crescimento & desenvolvimento , Biodiversidade , Micorrizas/classificação , Micorrizas/crescimento & desenvolvimento , Microbiologia do Solo , Árvores/microbiologia
20.
Mycorrhiza ; 24 Suppl 1: S39-46, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24509698

RESUMO

Owners of black truffle (Tuber melanosporum) plantations are concerned about the persistence of its mycorrhizas and mycelium in the soil, especially until the appearance of the "truffle burn" areas and the triggering of sporocarp production, at least 5-7 years after planting truffle-inoculated seedlings. During this period, the farmer does not know whether his management is promoting black truffle development. To study the presence and abundance of T. melanosporum ectomycorrhizas in plantations, two sampling methods, direct sampling of root tips and soil core collection, are compared by analyzing 48 evergreen oak trees (Quercus ilex) inoculated with truffle. Those trees are grouped by age (<6, 6-9, >9 years old) and presence or absence of truffle production. T. melanosporum was present in 46 out of the 48 studied trees, and its ectomycorrhizas appeared in 65% of the ectomycorrhizal tips. Its abundance is significantly higher with productive trees and young trees. Direct sampling of root tips and soil core collection were equally effective in detecting this species, although soil core collection proved a better method to also evaluate ectomycorrhizal fungal diversity. To detect the presence of T. melanosporum in a given plantation, three samples suffice, with a single sample per random tree. Although the presence of mycorrhizas is not a sure sign of the future success of a black truffle plantation, its absence influences managers as to whether to continue culturing truffles in a plantation.


Assuntos
Ascomicetos/fisiologia , Micorrizas/fisiologia , Quercus/microbiologia , Agricultura/métodos , Ascomicetos/crescimento & desenvolvimento , Micorrizas/crescimento & desenvolvimento , Dinâmica Populacional , Microbiologia do Solo
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