RESUMO
Using genetic methods, aneuploidies can be detected in ancient human remains, which is so far the only way to reliably prove their existence in the past. As highlighted in recent studies by Rohrlach et al. and by Anastasiadou et al., this initial step enables a deeper exploration of the history of rare diseases, encompassing the social and historical contexts of the afflicted individuals.
Assuntos
Aneuploidia , Genoma Humano , Humanos , DNA Antigo/análise , Genoma Humano/genéticaRESUMO
Autophagy is crucial for maintaining cell homeostasis. However, the precise mechanism underlying autophagy initiation remains to be defined. Here, we demonstrate that glutamine deprivation and hypoxia result in inhibition of mTOR-mediated acetyl-transferase ARD1 S228 phosphorylation, leading to ARD1-dependent phosphoglycerate kinase 1 (PGK1) K388 acetylation and subsequent PGK1-mediated Beclin1 S30 phosphorylation. This phosphorylation enhances ATG14L-associated class III phosphatidylinositol 3-kinase VPS34 activity by increasing the binding of phosphatidylinositol to VPS34. ARD1-dependent PGK1 acetylation and PGK1-mediated Beclin1 S30 phosphorylation are required for glutamine deprivation- and hypoxia-induced autophagy and brain tumorigenesis. Furthermore, PGK1 K388 acetylation levels correlate with Beclin1 S30 phosphorylation levels and poor prognosis in glioblastoma patients. Our study unearths an important mechanism underlying cellular-stress-induced autophagy initiation in which the protein kinase activity of the metabolic enzyme PGK1 plays an instrumental role and reveals the significance of the mutual regulation of autophagy and cell metabolism in maintaining cell homeostasis.
Assuntos
Autofagossomos/enzimologia , Autofagia , Proteína Beclina-1/metabolismo , Neoplasias Encefálicas/enzimologia , Glioblastoma/enzimologia , Fosfoglicerato Quinase/metabolismo , Acetilação , Animais , Autofagossomos/patologia , Proteína Beclina-1/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Linhagem Celular Tumoral , Proliferação de Células , Classe III de Fosfatidilinositol 3-Quinases/genética , Classe III de Fosfatidilinositol 3-Quinases/metabolismo , Feminino , Glioblastoma/genética , Glioblastoma/patologia , Glutamina/deficiência , Células HEK293 , Humanos , Camundongos Nus , Acetiltransferase N-Terminal A/genética , Acetiltransferase N-Terminal A/metabolismo , Acetiltransferase N-Terminal E/genética , Acetiltransferase N-Terminal E/metabolismo , Fosfoglicerato Quinase/genética , Fosforilação , Ligação Proteica , Interferência de RNA , Transdução de Sinais , Serina-Treonina Quinases TOR/genética , Serina-Treonina Quinases TOR/metabolismo , Fatores de Tempo , Transfecção , Carga Tumoral , Hipóxia TumoralRESUMO
Radiometric Terrain Corrected (RTC) gamma nought backscatter, which was introduced around a decade ago, has evolved into the standard for analysis-ready Synthetic Aperture Radar (SAR) data. While working with RTC backscatter data is particularly advantageous over undulated terrain, it requires substantial computing resources given that the terrain flattening is more computationally demanding than simple orthorectification. The extra computation may become problematic when working with large SAR datasets such as the one provided by the Sentinel-1 mission. In this study, we examine existing Sentinel-1 RTC pre-processing workflows and assess ways to reduce processing and storage overheads by considering the satellite's high orbital stability. By propagating Sentinel-1's orbital deviations through the complete pre-processing chain, we show that the local contributing area and the shadow mask can be assumed to be static for each relative orbit. Providing them as a combined external static layer to the pre-processing workflow, and streamlining the transformations between ground and orbit geometry, reduces the overall processing times by half. We conducted our experiments with our in-house developed toolbox named wizsard, which allowed us to analyse various aspects of RTC, specifically run time performance, oversampling, and radiometric quality. Compared to the Sentinel Application Platform (SNAP) this implementation allowed speeding up processing by factors of 10-50. The findings of this study are not just relevant for Sentinel-1 but for all SAR missions with high spatio-temporal coverage and orbital stability.
Assuntos
Radar , Radiometria , Raios gama , Fluxo de TrabalhoRESUMO
Apple replant disease (ARD) is a worldwide economic risk in apple production. Although several studies have shown that the wild apple accession Malus × robusta 5 (Mr5) is ARD-tolerant, the genetics of this tolerance have not yet been elucidated. A genetic mapping approach with a biparental population derived from contrasting parents involving molecular markers provides a means for marker-assisted selection of genetically complex traits and for determining candidate genes. In this study, we crossed the ARD-tolerant wild apple accession Mr5 and the ARD-susceptible rootstock 'M9' and analyzed the resultant progeny for ARD tolerance. Hence, a high-density genetic map using a tunable genotyping-by-sequencing (tGBS) approach was established. A total of 4804 SNPs together with 77 SSR markers were included in the parental maps comprising 17 linkage groups. The phenotypic responses to ARD were evaluated for 106 offspring and classified by an ARD-susceptibility index (ASI). A Kruskal-Wallis test identified SNP markers and one SSR marker on linkage groups (LG) 6 and 2 that correlated with ARD tolerance. We found nine candidate genes linked with these markers, which may be associated with plant response to ARD. These candidate genes provide some insight into the defense mechanisms against ARD and should be studied in more detail.
Assuntos
Malus , Malus/genética , Polimorfismo de Nucleotídeo Único , Mapeamento Cromossômico , Marcadores GenéticosRESUMO
The inference of genetic regulatory networks (GRNs) reveals how genes interact with each other. A few genes can regulate many genes as targets to control cell functions. We present new methods based on the order-1 vector autoregression (VAR1) for inferring GRNs from gene expression time series. The methods use the automatic relevance determination (ARD) to incorporate the regulatory hub structure into the estimation of VAR1 in a Bayesian framework. Several sparse approximation schemes are applied to the estimated regression weights or VAR1 model to generate the sparse weighted adjacency matrices representing the inferred GRNs. We apply the proposed and several widespread reference methods to infer GRNs with up to 100 genes using simulated, DREAM4 in silico and experimental E. coli gene expression time series. We show that the proposed methods are efficient on simulated hub GRNs and scale-free GRNs using short time series simulated by VAR1s and outperform reference methods on small-scale DREAM4 in silico GRNs and E. coli GRNs. They can utilize the known major regulatory hubs to improve the performance on larger DREAM4 in silico GRNs and E. coli GRNs. The impact of nonlinear time series data on the performance of proposed methods is discussed.
Assuntos
Escherichia coli , Redes Reguladoras de Genes , Algoritmos , Teorema de Bayes , Biologia Computacional/métodos , Escherichia coli/genéticaRESUMO
OBJECTIVES: The 5α-reductase-type-2 deficiency (5ARD2) is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated 5α-reductase type 2 (SRD5A2) gene. In this disease, defective conversion of testosterone to dihydrotestosterone leads to variable presentations of male ambiguous genitalia during fetal development. We aimed to examine characteristics of patients presenting with 5ARD2 over a 4 year period. METHODS: Random urine samples of control and patients with suspected 5ARD2 were collected and urine steroidomic metabolites were measured by Gas chromatography-mass spectrometry (GC-MS) in the period from 2017 to 2021 at National Children's Hospital, Hanoi Vietnam. 5α- to 5ß-reduced steroid metabolite ratio, 5a-tetrahydrocortisol to tetrahydrocortisol (5α-THF/THF), was reviewed by receive operator characteristics (ROC) curve analysis. Molecular testing was offered to 25 patients who were diagnosed with 5ARD2 by GC-MS urinary steroid analysis. RESULTS: Urine steroidomic profiling was conducted for 104 male controls and 25 patients between the ages of 6 months and 13 years old. Twelve of the twenty-five 5ARD2 patients agreed to undertake genetic analysis, and two mutations of the SRD5A2 gene were detected in each patient, confirming the diagnosis. All patients showed a characteristically low ratio of 5α-THF/THF. There was no overlap of 5α-THF/THF ratio values between control and 5ARD2 groups. The ROC of 5α-THF/THF ratio at 0.19 showed 100% sensitivity and 100% specificity for boys between 6 months and 13 years of age. CONCLUSIONS: Analysis of the urine steroid metabolome by GC-MS can be used to assist in the diagnosis of 5ARD2. We recommend consideration of random urine steroid analysis as a first-line test in the diagnosis of 5ARD2.
Assuntos
Oxirredutases , Esteroides , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Povo Asiático , Criança , Transtorno 46,XY do Desenvolvimento Sexual , Cromatografia Gasosa-Espectrometria de Massas , Humanos , Hipospadia , Lactente , Masculino , Proteínas de Membrana , Erros Inatos do Metabolismo de Esteroides , Esteroides/urina , Tetra-Hidrocortisol/urina , VietnãRESUMO
Industrial processes typically produce large wastewater volumes, which, if left untreated, greatly affect receiving ecosystems. However, wastewater treatment can be costly and energy-intensive, with the developing world particularly struggling with wastewater management. As such, simple and cost-effective solutions are urgently required with the passive (no energy or reagents) co-treatment of different wastewater matrices holding great promise. Here, wastewater from a phosphorus recovery system (chemical precipitation) was co-treated with acid mine drainage (AMD). Specifically, phosphorus-rich municipal wastewater was treated with hydrated lime, as to synthesize a wastewater-derived phosphorus product, i.e., calcium phosphate (Ca3(PO4)2), also producing a phosphorous-depleted alkaline effluent. The feasibility of valorising this effluent is examined here by using it for the passive co-treatment of real AMD. Different liquid-to-liquid (v/v) ratios were considered, with the optimum ratio (AMD to phosphate-depleted wastewater) being 1:9. The pH of the co-treated effluent was adjusted to 8.4 (from an initial value of 11.5 in the phosphorus-depleted wastewater and 2.2 in AMD), while metals (â¼100% reduction of Fe, Mn, Ni, Cu, Pb, ≥99.5 for Al, Zn, and Mg, 80% for Cr, and 75% for As) and sulphate (89.26% reduction) contained in AMD were greatly removed. This was also the case for the remaining orthophosphate that was contained in the phosphorus-depleted wastewater (93.75% reduction). The electrical conductivity was also reduced in both the AMD (88.75%) and the phosphorus-depleted wastewater (69.21%), suggesting the removal of contaminants from both matrices. Results were underpinned by state-of-the-art analytical techniques, including FE-SEM/FIB/EDX, FTIR, and XRD, along with geochemical modelling (PHREEQC). Contaminants were removed through complexation, (co)adsorption, crystallization, and (co)precipitation. Overall, results suggest that the co-treatment of these wastewater matrices is feasible and could be directly scaled up (e.g., using waste stabilization ponds), while opportunities for the beneficiation of the produced sludge and for water reclamation (e.g., through membrane filtration) could also arise, further promoting the sustainably of this passive co-treatment method.
Assuntos
Águas Residuárias , Poluentes Químicos da Água , Fósforo , Ecossistema , Mineração , Fosfatos , Poluentes Químicos da Água/químicaRESUMO
Tigilanol tiglate (EBC-46) is a small-molecule natural product under development for the treatment of cancers in humans and companion animals. The drug is currently produced by purification from the Australian rainforest tree Fontainea picrosperma (Euphorbiaceae). As part of a selective-breeding program to increase EBC-46 yield from F. picrosperma plantations, we investigated potential gene biomarkers associated with biosynthesis of EBC-46. Initially, we identified individual plants that were either high (>0.039%) or low EBC-46 (<0.008%) producers, then assessed their differentially expressed genes within the leaves and roots of these two groups by quantitative RNA sequencing. Compared to low EBC-46 producers, high-EBC-46-producing plants were found to have 145 upregulated genes and 101 downregulated genes in leaves and 53 upregulated genes and 82 downregulated genes in roots. Most of these genes were functionally associated with defence, transport, and biosynthesis. Genes identified as expressed exclusively in either the high or low EBC-46-producing plants were further validated by quantitative PCR, showing that cytochrome P450 94C1 in leaves and early response dehydration 7.1 and 2-alkenal reductase in roots were consistently and significantly upregulated in high-EBC-46 producers. In summary, this study has identified biomarker genes that may be used in the selective breeding of F. picrosperma.
Assuntos
Diterpenos , Euphorbiaceae , Marcadores Genéticos , Diterpenos/química , Ésteres/química , Euphorbiaceae/química , Euphorbiaceae/genética , Regulação da Expressão Gênica de Plantas , Genes de Plantas , Melhoramento Vegetal , Folhas de Planta/química , Folhas de Planta/genética , Raízes de Plantas/química , Raízes de Plantas/genéticaRESUMO
Protein kinase C-δ (PKCδ) is a diacylglycerol-dependent, calcium-independent novel PKC isoform that is engaged in various cell signaling pathways, such as cell proliferation, apoptosis, inflammation, and oxidative stress. In this study, we searched for proteins that bind PKCδ using a yeast two-hybrid assay and identified murine arrest-defective 1 (mARD1) as a binding partner. The interaction between PKCδ and mARD1 was confirmed by glutathione S-transferase pull-down and co-immunoprecipitation assays. Furthermore, recombinant PKCδ phosphorylated full-length mARD1 protein. The NetPhos online prediction tool suggested PKCδ phosphorylates Ser80 , Ser108 , and Ser114 residues of mARD1 with the highest probability. Based on these results, we synthesized peptides containing these sites and examined their phosphorylations using recombinant PKCδ. Autoradiography confirmed these sites were efficiently phosphorylated. Consequent mass spectrometry and peptide sequencing in combination with MALDI-TOF MS/MS confirmed that Ser80 and Ser108 were major phosphorylation sites. The alanine mutations of Ser80 and Ser108 abolished the phosphorylation of mARD1 by PKCδ in 293T cells supporting these observations. In addition, kinase assays using various PKC isotypes showed that Ser80 of ARD1 was phosphorylated by PKCßI and PKCζ isotypes with the highest selectivity, while Ser108 and/or Ser114 were phosphorylated by PKCγ with activities comparable to that of the PKCδ isoform. Overall, these results suggest the possibility that PKCδ transduces signals by regulating phosphorylation of ARD1.
Assuntos
Acetiltransferase N-Terminal A/metabolismo , Acetiltransferase N-Terminal E/metabolismo , Fosforilação/fisiologia , Proteína Quinase C-delta/metabolismo , Sequência de Aminoácidos , Animais , Linhagem Celular , Linhagem Celular Tumoral , Células HEK293 , Células HeLa , Humanos , Camundongos , Estresse Oxidativo/fisiologia , Peptídeos/metabolismo , Isoformas de Proteínas/metabolismo , Serina/metabolismo , Transdução de Sinais/fisiologiaRESUMO
Apple Replant Disease (ARD) is a significant problem in apple orchards that causes root tissue damage, stunted plant growth, and decline in fruit quality, size, and overall yield. Dysbiosis of apple root-associated microbiome and selective richness of Streptomyces species in the rhizosphere typically concurs root impairment associated with ARD. However, possible roles of Streptomyces secondary metabolites within these observations remain unstudied. Therefore, we employed the One Strain Many Compounds (OSMAC) approach coupled to high-performance liquid chromatography-high-resolution tandem mass spectrometry (HPLC-HRMSn) to evaluate the chemical ecology of an apple root-associated Streptomycesciscaucasicus strain GS2, temporally over 14 days. The chemical OSMAC approach comprised cultivation media alterations using six different media compositions, which led to the biosynthesis of the iron-chelated siderophores, ferrioxamines. The biological OSMAC approach was concomitantly applied by dual-culture cultivation for microorganismal interactions with an endophytic Streptomyces pulveraceus strain ES16 and the pathogen Cylindrocarpon olidum. This led to the modulation of ferrioxamines produced and further triggered biosynthesis of the unchelated siderophores, desferrioxamines. The structures of the compounds were elucidated using HRMSn and by comparison with the literature. We evaluated the dynamics of siderophore production under the combined influence of chemical and biological OSMAC triggers, temporally over 3, 7, and 14 days, to discern the strain's siderophore-mediated chemical ecology. We discuss our results based on the plausible chemical implications of S. ciscaucasicus strain GS2 in the rhizosphere.
Assuntos
Malus/microbiologia , Raízes de Plantas/microbiologia , Sideróforos/metabolismo , Streptomyces/química , Cromatografia Líquida de Alta Pressão/métodos , Malus/metabolismo , Raízes de Plantas/metabolismo , Rizosfera , Espectrometria de Massas em Tandem/métodosRESUMO
Over the last two decades the molecular phylogeny and classification of Metarhizium has been widely studied. Despite these efforts to understand this enigmatic genus, the basal lineages in Metarhizium are still poorly resolved. In this study, a phylogenetic framework is reconstructed for the Clavicipitaceae focusing on Metarhizium through increased taxon-sampling using five genomic loci (SSU, LSU, tef, rpb1, rpb2) and the barcode marker ITS rDNA. Multi-gene phylogenetic analyses and morphological characterisation of green-spored entomopathogenic Metarhizium isolates from Thailand and soil isolates of M. carneum and M. marquandii reveal their ecological, genetic and species diversity. Nineteen new species are recognised in the Metarhizium clade with narrow host ranges: two new species are found in the M. anisopliae complex - M. clavatum on Coleoptera larvae and M. sulphureum on Lepidoptera larvae; four new species are found in the M. flavoviride complex - M. biotecense and M. fusoideum on brown plant hoppers (Hemiptera), M. culicidarum on mosquitoes, M. nornnoi on Lepidoptera larvae; three new species M. megapomponiae, M. cicadae, M. niveum occur on cicadas; five new species M. candelabrum, M. cercopidarum, M. ellipsoideum, M. huainamdangense M. ovoidosporum occur on planthoppers, leafhoppers and froghoppers (Hemiptera); one new species M. eburneum on Lepidoptera pupae; and four new species M. phuwiangense, M. purpureum, M. purpureonigrum, M. flavum on Coleoptera . Of these 19 new species, seven produce a sexual morph (M. clavatum, M. eburneum, M. flavum, M. phuwiangense, M. purpureonigrum, M. purpureum, and M. sulphureum) and asexual morphs are found in the remaining new species and also in M. sulphureum, M. purpureonigrum and M. purpureum. Metarhizium blattodeae, M. koreanum and M. viridulum are new records for Thailand. An alternative neotype for Metarhizium anisopliae is proposed based on multi-gene and 5'tef analyses showing that CBS 130.71 from Ukraine is more suitable, being from a much closer geographical location to Metchnikoff's Metarhizium anisopliae. This isolate is distinct from the neotype of Metarhizium anisopliae var. anisopliae proposed by M. Tulloch from Ethiopia (ARSEF 7487). Six new genera are established for monophyletic clades subtending the core Metarhizium clade, including Keithomyces, Marquandomyces, Papiliomyces, Purpureomyces, Sungia, and Yosiokobayasia. Metarhizium carneum, M. aciculare, and M. neogunnii are combined in Keithomyces and one new combination for M. marquandii in Marquandomyces is proposed. Purpureomyces is introduced for species producing purple stromata including a new combination for M. khaoyaiense and two new species P. maesotensis and P. pyriformis. Papiliomyces contains two new combinations for M. liangshanense and Metacordyceps shibinensis. The genus Sungia is proposed for the Korean species M. yongmunense on Lepidoptera pupa and Yosiokobayasia for the Japanese species M. kusanagiense also on Lepidoptera pupa. A synoptic and dichotomous key to the accepted taxa is provided together with tables listing distinguishing morphological characters between species, host preferences, and geography.
RESUMO
Ethylene plays an important role in stress adaptation and fruit ripening. Acireductone dioxygenase (ARD) is pivotal for ethylene biosynthesis. However, the response of ARD to fruit ripening or cold stress is still unclear. In this study, we identified three members of Malus ARD family, and expression profile analysis revealed that the transcript level of MdARD4 was induced during apple fruit ripening and after apple plants were being treated with cold stress. To investigate its function in cold tolerance and fruit ripening, MdARD4 was ectopically expressed in Solanum lycopersicum cultivar 'Micro-Tom', which has been considered as an excellent model plant for the study of fruit ripening. At the cellular level, the MdARD protein expressed throughout Nicotiana benthamiana epidermal cells. Overexpression of MdARD4 in tomato demonstrated that MdARD4 regulates the ethylene and carotenoid signaling pathway, increases ethylene and carotenoid concentrations, and accelerates fruit ripening. Furthermore, MdARD4 increased the antioxidative ability and cold hardiness in tomato. To conclude, MdARD4 may potentially be used in apple breeding to accelerate fruit ripening and increase cold hardiness.
Assuntos
Dioxigenases/genética , Dioxigenases/metabolismo , Malus/genética , Solanum lycopersicum/crescimento & desenvolvimento , Carotenoides/metabolismo , Resposta ao Choque Frio , Etilenos/biossíntese , Evolução Molecular , Frutas/genética , Frutas/crescimento & desenvolvimento , Solanum lycopersicum/genética , Filogenia , Melhoramento Vegetal , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Plantas Geneticamente Modificadas/crescimento & desenvolvimentoRESUMO
Arrest defective 1 (ARD1), also known as N(alpha)-acetyltransferase 10 (NAA10) was originally identified as an N-terminal acetyltransferase (NAT) that catalyzes the acetylation of N-termini of newly synthesized peptides. After that, mammalian ARD1/NAA10 expanded its' role to lysine acetyltransferase (KAT) that post-translationally acetylates internal lysine residues of proteins. ARD1/NAA10 is the only enzyme with both NAT and KAT activities. However, recent studies on the role of human ARD1/NAA10 (hARD1/NAA10) in lysine acetylation are contradictory, as crystal structure and in vitro acetylation assay results revealed the lack of KAT activity. Thus, the role of hARD1/NAA10 in lysine acetylation is still debating. Here, we found a clue that possibly explains these complicated and controversial results on KAT activity of hARD1/NAA10. Recombinant hARD1/NAA10 exhibited KAT activity, which disappeared soon in vitro. Size-exclusion analysis revealed that most recombinant hARD1/NAA10 formed oligomers over time, resulting in the loss of KAT activity. While oligomeric recombinant hARD1/NAA10 lost its ability for lysine acetylation, its monomeric form clearly exhibited lysine acetylation activity in vitro. We also characterized the KAT activity of hARD1/NAA10 that was influenced by several experimental conditions, including concentration of reactants and reaction time. Taken together, our study proves that recombinant hARD1/NAA10 exhibits KAT activity in vitro but only under accurate conditions, including reactant concentrations and reaction duration.
Assuntos
Lisina Acetiltransferases/metabolismo , Acetiltransferase N-Terminal A/metabolismo , Acetiltransferase N-Terminal E/metabolismo , Acetilação , Diálise , Escherichia coli , Humanos , Lisina/metabolismo , Acetiltransferase N-Terminal A/genética , Acetiltransferase N-Terminal A/isolamento & purificação , Acetiltransferase N-Terminal E/genética , Acetiltransferase N-Terminal E/isolamento & purificação , Proteínas Recombinantes/genética , Proteínas Recombinantes/isolamento & purificação , Proteínas Recombinantes/metabolismoRESUMO
Multivoxel pattern analysis (MVPA) methods have been widely applied in recent years to classify human brain states in functional magnetic resonance imaging (fMRI) data analysis. Voxel selection plays an important role in MVPA studies not only because it can improve decoding accuracy but also because it is useful for understanding brain functions. There are many voxel selection methods that have been proposed in fMRI literature. However, most of these methods either overlook the structure information of fMRI data or require additional cross-validation procedures to determine the hyperparameters of the models. In the present work, we proposed a voxel selection method for binary brain decoding called group sparse Bayesian logistic regression (GSBLR). This method utilizes the group sparse property of fMRI data by using a grouped automatic relevance determination (GARD) as a prior for model parameters. All the parameters in the GSBLR can be estimated automatically, thereby avoiding additional cross-validation. Experimental results based on two publicly available fMRI datasets and simulated datasets demonstrate that GSBLR achieved better classification accuracies and yielded more stable solutions than several state-of-the-art methods.
Assuntos
Mapeamento Encefálico/métodos , Encéfalo/fisiologia , Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Reconhecimento Automatizado de Padrão/métodos , Teorema de Bayes , Conjuntos de Dados como Assunto , HumanosRESUMO
This paper represents the second contribution in the Genera of Phytopathogenic Fungi (GOPHY) series. The series provides morphological descriptions and information regarding the pathology, distribution, hosts and disease symptoms for the treated genera. In addition, primary and secondary DNA barcodes for the currently accepted species are included. This second paper in the GOPHY series treats 20 genera of phytopathogenic fungi and their relatives including: Allantophomopsiella, Apoharknessia, Cylindrocladiella, Diaporthe, Dichotomophthora, Gaeumannomyces, Harknessia, Huntiella, Macgarvieomyces, Metulocladosporiella, Microdochium, Oculimacula, Paraphoma, Phaeoacremonium, Phyllosticta, Proxypiricularia, Pyricularia, Stenocarpella, Utrechtiana and Wojnowiciella. This study includes the new genus Pyriculariomyces, 20 new species, five new combinations, and six typifications for older names.
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Steroid 5-α-reductase-2 (5-ARD) deficiency is a result of mutations of the SRD5A2 gene. It causes the disorder of sexual differentiation (DSD) in 46,XY individuals with a variable genital phenotype. We present two siblings with female external genitalia at birth and bilateral inguinal testes, raised as females. These are the first molecularly characterized patients from the Republic of North Macedonia (RN Macedonia) with a different clinical course due to the time of the diagnosis. Diagnosis of Patient 1 was based upon the detection of bilateral inguinal testes and testosterone/dihidrotestosterone ratio. Sex reversal was initiated by testes removal at the age of 20 months. Breast implantation and vaginoplasty were performed in adolescence and the girl is comfortable with the female sex. Her sibling, Patient 2, raised as a girl, was clinically assessed at 11.5 years due to the growth of phalus, deep voice and Adam's apple enlargement. No change of gender was accepted. Complex molecular analysis including multiplex quantitative fluorescent polymerase chain reaction (PCR) screening for sex chromosome aneuploidies and SRY presence, Sanger sequencing combined with multiplex ligation-dependent probe amplification (MLPA), microarray-based comparative genomic hybridization (aCGH), and real-time PCR analysis for detection of exon copy number changes confirmed a novel c.146C>A (p.Ala49Asp) point mutation in the first exon inherited from the mother, and complete deletion of the first exon and adjacent regions inherited from the father. Novel genotype causing 5-ARD is presented. Genetic analysis is useful for the diagnosis and timely gender assignment in patients with 5-ARD. However, final gender assignment is difficult and requires combined medical interventions.
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AIM: To investigate the feasibility of including patients' reports on the cosmetic properties of topical formulations for acute radiation dermatitis (ARD). BACKGROUND: No topical agent tested for acute radiation dermatitis (ARD) has proven to be better than any other, all achieving similar objective outcomes. No clear guidelines have therefore been established in clinics. Because the vehicle for such creams has shown to be an important factor in patient adherence to treatments in other dermatological diseases, patients' opinions are evaluated. MATERIAL AND METHODS: Seventy breast cancer patients referred for postoperative radiotherapy after conservative surgery were enrolled. Patients were assigned to use one of the 7 topical agents that are most-commonly used in the prevention of ARD. Patients' reports were assessed using continuous visual analogue scales (VAS), objective signs and symptoms produced by ARD, and were rated using the RTOG and RISRAS scales. RESULTS: The creams tested differed in their cosmetic properties significantly (p = 0.044). The performance of the agent, their absorption and any residue left over were also significantly different (p = 0.022, 0.014 and 0.02, respectively). CONCLUSIONS: Topical agents for preventive ARD are reported by patients to show different cosmetic properties. Cosmetic properties are important when choosing topical agents for ARD prevention. Recommending those with better cosmetic profiles would improve patient adherence to treatments.
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Human adenovirus type 4 (HAdV-4) is most commonly isolated in military settings. We conducted detailed molecular characterization on 36 HAdV-4 isolates recovered from civilian adults with acute respiratory disease (ARD) in the northeastern United States during 2011-2015. Specimens came from college students, residents of long-term care facilities or nursing homes, a cancer patient, and young adults without co-morbidities. HAdV-4 genome types 4a1 and 4a2, the variants most frequently detected among US military recruits in basic training before the restoration of vaccination protocols, were isolated in most cases. Two novel a-like variants were recovered from students enrolled at a college in Tompkins County, New York, USA, and a prototype-like variant distinguishable from the vaccine strain was isolated from an 18-year-old woman visiting a physician's office in Ulster County, New York, USA, with symptoms of influenza-like illness. Our data suggest that HAdV-4 might be an underestimated causative agent of ARD among civilian adults.
Assuntos
Infecções por Adenovirus Humanos/epidemiologia , Infecções por Adenovirus Humanos/virologia , Adenovírus Humanos/classificação , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/virologia , Infecções por Adenovirus Humanos/diagnóstico , Adenovírus Humanos/genética , Adulto , Surtos de Doenças , Genoma Viral , Humanos , Epidemiologia Molecular , New England/epidemiologia , Estudos RetrospectivosRESUMO
Ophiocordyceps is a heterogeneous, species-rich genus in the order Hypocreales (Sordariomycetes, Ascomycota) that includes invertebrate-pathogenic taxa. In this study, seven new species in Ophiocordyceps producing superficial perithecia infecting various insect hosts (Lepidoptera, Hemiptera) are described from Thailand - Ophiocordyceps brunneinigra, O. brunneiperitheciata, O. geometridicola, O. multiperitheciata, O. pauciovoperitheciata, O. pseudoacicularis and O. spataforae. Phylogenetic analyses based on multigene loci comprising the large subunit of the ribosomal DNA (LSU), partial sequences of elongation factor 1-alpha (TEF) and the largest and second largest subunit of the RNA polymerase (RPB1, PRB2) strongly support these new species of Ophiocordyceps in the Ophiocordycipitaceae. They differ from species previously described species Ophiocordyceps acicularis, O. atewensis, O. cochlidiicola, and O. crinalis, in the shape and sizes of distinguishing characters such as perithecia, ascospores and conidia. We also report a new record of O. macroacicularis in Thailand.
RESUMO
Microbotryum silybum, a smut fungus, is studied as an agent for the biological control of Silybum marianum (milk thistle) weed. Confirmation of the systemic infection is essential in order to assess the effectiveness of the biological control application and assist decision-making. Nonetheless, in situ diagnosis is challenging. The presently demonstrated research illustrates the identification process of systemically infected S. marianum plants by means of field spectroscopy and the multilayer perceptron/automatic relevance determination (MLP-ARD) network. Leaf spectral signatures were obtained from both healthy and infected S. marianum plants using a portable visible and near-infrared spectrometer (310â»1100 nm). The MLP-ARD algorithm was applied for the recognition of the infected S. marianum plants. Pre-processed spectral signatures served as input features. The spectra pre-processing consisted of normalization, and second derivative and principal component extraction. MLP-ARD reached a high overall accuracy (90.32%) in the identification process. The research results establish the capacity of MLP-ARD to precisely identify systemically infected S. marianum weeds during their vegetative growth stage.