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1.
J Inherit Metab Dis ; 2024 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-38961737

RESUMO

Fabry Registry data were analyzed among 83 agalsidase beta-treated patients with Fabry disease who switched to migalastat. Outcomes (estimated glomerular filtration rate [eGFR], urine protein-creatinine ratio [UPCR], plasma globotriaosylceramide [GL-3], plasma globotriaosylsphingosine [lyso-GL-3], interventricular septal wall thickness [IVST], left posterior wall thickness [LPWT], left ventricular mass index [LVMI]) were assessed using linear mixed models to estimate annual change over time in the pre- and postswitch periods. eGFR decreased throughout both periods (preswitch: -0.85 mL/min/1.73 m2/year; postswitch: -1.96 mL/min/1.73 m2/year; both p < 0.0001), with steeper decline postswitch (ppre/post = 0.01) in both classic and late-onset patients. UPCR increased significantly postswitch (ppre/post = 0.003) among classic patients and was stable in both periods among late-onset patients. GL-3 trajectories worsened postswitch across phenotypes (ppre/post = 0.0005 classic, 0.02 late-onset). LPWT was stable preswitch (0.07 mm/year, p = 0.25) and decreased postswitch (-0.51 mm/year, p = 0.0005; ppre/post = 0.0009), primarily among late-onset patients. IVST and LVMI slopes varied significantly by phenotype. Among classic patients, IVST and LVMI were stable and decreasing, respectively preswitch and increasing postswitch (ppre/post = 0.02 IVST, 0.01 LVMI). Among late-onset patients, IVST significantly decreased postswitch (ppre/post = 0.0003); LVMI was stable over time (ppre/post = 0.89). Ultimately, eGFR and GL-3 trajectories worsened postswitch across phenotypes, while UPCR and cardiac measures worsened among classic and stabilized/improved among late-onset patients. These findings indicate variability in long-term outcomes after switching from ERT to migalastat, underscoring the importance of careful monitoring.

2.
J Fungi (Basel) ; 9(12)2023 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-38132781

RESUMO

Cryptic species are common in lichen-forming fungi and have been reported from different genera in the most speciose family, Parmeliaceae. Herein, we address species delimitation in a group of mainly asexually reproducing Parmelina species. The morphologically distinct P. pastillifera was previously found nested within a morphologically circumscribed P. tiliacea based on several loci. However, these studies demonstrated a relatively high genetic diversity within P. tiliacea sensu lato. Here, we revisit the species delimitation in the group by analyzing single-nucleotide polymorphisms (SNPs) through genome-wide assessment using Restriction-Site-Associated sequencing and population genomic methods. Our data support previous studies and provide further insight into the phylogenetic relationships of the four clades found within the complex. Based on the evidence suggesting a lack of gene flow among the clades, we recognize the four clades as distinct species, P. pastillifera and P. tiliacea sensu stricto, and two new species, P. clandestina sp. nov. and P. mediterranea sp. nov.

3.
Front Endocrinol (Lausanne) ; 14: 1213441, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37600695

RESUMO

Objective: To assess the prevalence of pancreatic steatosis and iron overload in non-alcoholic fatty liver disease (NAFLD) and their correlation with liver histology severity and the risk of cardiometabolic diseases. Method: A prospective, multicenter study including NAFLD patients with biopsy and paired Magnetic Resonance Imaging (MRI) was performed. Liver biopsies were evaluated according to NASH Clinical Research Network, hepatic iron storages were scored, and digital pathology quantified the tissue proportionate areas of fat and iron. MRI-biomarkers of fat fraction (PDFF) and iron accumulation (R2*) were obtained from the liver and pancreas. Different metabolic traits were evaluated, cardiovascular disease (CVD) risk was estimated with the atherosclerotic CVD score, and the severity of iron metabolism alteration was determined by grading metabolic hiperferritinemia (MHF). Associations between CVD, histology and MRI were investigated. Results: In total, 324 patients were included. MRI-determined pancreatic iron overload and moderate-to severe steatosis were present in 45% and 25%, respectively. Liver and pancreatic MRI-biomarkers showed a weak correlation (r=0.32 for PDFF, r=0.17 for R2*). Pancreatic PDFF increased with hepatic histologic steatosis grades and NASH diagnosis (p<0.001). Prevalence of pancreatic steatosis and iron overload increased with the number of metabolic traits (p<0.001). Liver R2* significantly correlated with MHF (AUC=0.77 [0.72-0.82]). MRI-determined pancreatic steatosis (OR=3.15 [1.63-6.09]), and iron overload (OR=2.39 [1.32-4.37]) were independently associated with high-risk CVD. Histologic diagnosis of NASH and advanced fibrosis were also associated with high-risk CVD. Conclusion: Pancreatic steatosis and iron overload could be of utility in clinical decision-making and prognostication of NAFLD.


Assuntos
Doenças Cardiovasculares , Sobrecarga de Ferro , Transtornos do Metabolismo dos Lipídeos , Hepatopatia Gordurosa não Alcoólica , Pancreatopatias , Humanos , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Estudos Prospectivos , Fatores de Risco , Pancreatopatias/complicações , Pancreatopatias/diagnóstico por imagem , Sobrecarga de Ferro/complicações , Ferro , Fatores de Risco de Doenças Cardíacas
4.
EMBO Mol Med ; 15(7): e17159, 2023 07 10.
Artigo em Inglês | MEDLINE | ID: mdl-37366158

RESUMO

Rare diseases affect over 400 million people worldwide and less than 5% of rare diseases have an approved treatment. Fortunately, the number of underlying disease etiologies is far less than the number of diseases, because many rare diseases share a common molecular etiology. Moreover, many of these shared molecular etiologies are therapeutically actionable. Grouping rare disease patients for clinical trials based on the underlying molecular etiology, rather than the traditional, symptom-based definition of disease, has the potential to greatly increase the number of patients gaining access to clinical trials. Basket clinical trials based on a shared molecular drug target have become common in the field of oncology and have been accepted by regulatory agencies as a basis for drug approvals. Implementation of basket clinical trials in the field of rare diseases is seen by multiple stakeholders-patients, researchers, clinicians, industry, regulators, and funders-as a solution to accelerate the identification of new therapies and address patient's unmet needs.


Assuntos
Aprovação de Drogas , Doenças Raras , Humanos , Doenças Raras/tratamento farmacológico
5.
Rev. Soc. Andal. Traumatol. Ortop. (Ed. impr.) ; 40(1): 25-32, ene.-mar. 2023. tab
Artigo em Espanhol | IBECS | ID: ibc-229879

RESUMO

Introducción La luxación tras una cirugía de artroplastia de cadera es una temible complicación que se ha presentado desde el desarrollo de la técnica. Se han realizado múltiples estudios comparativos que intentan aclarar cuáles son los factores que influyen en este suceso adverso. Métodos En nuestro caso hemos llevado a cabo un estudio retrospectivo analizando 476 pacientes, que han sido divididos en función de si habían sufrido un episodio de luxación o no y llevando a cabo un análisis estadístico de las posibles variables que podrían haber afectado en ello; diseñándose así un estudio de casos y controles. Resultados y conclusiones En nuestro estudio hemos obtenido que la enfermedad mental aumenta hasta 6 veces más el riesgo de sufrir un episodio de luxación tras someterse al paciente a una artroplastia de cadera por fractura (OR 6,429; IC 95% 1,568 - 26,361), al igual que el hecho de padecer una infección post-quirúrgica (OR 11,667; IC 95% 2,147 - 63,394). No obstante, sería adecuado realizar más estudios para su confirmación, al igual que el hecho de realizar estudios con un mayor tamaño muestral podrían apoyar o rebatir nuestros hallazgos. (AU)


Introduction Dislocation after a hip arthroplasty is a terrible complication that has been present since the technique was developed. Many studies have been developed in order to see which risk factors affect on this adverse effect. Methods We have made a retrospective study, analysing 476 patients. They have been divided in two groups, one if they have suffered from prosthetic hip dislocation and the other if they have not. After that, we did a stadistical analysys of posible risk factors, designing a case-control study. Results and conclusión In our study, we have found that mental illness increseases up to 6 times the risk of suffering a hip dislocation (OR 6,429; IC 95% 1,568 - 26,361). We also found relation with suffering from an acu-te infection (OR 11,667; IC 95% 2,147 - 63,394). However, more studies, or with a bigger popula-tion should be performed in order to make a statement. (AU)


Assuntos
Humanos , Fraturas do Colo Femoral/complicações , Artroplastia de Quadril , Luxação do Quadril , Estudos Retrospectivos , Estudos de Casos e Controles
6.
Rev. Soc. Andal. Traumatol. Ortop. (Ed. impr.) ; 40(1): 25-32, ene.-mar. 2023. tab
Artigo em Espanhol | IBECS | ID: ibc-EMG-497

RESUMO

Introducción La luxación tras una cirugía de artroplastia de cadera es una temible complicación que se ha presentado desde el desarrollo de la técnica. Se han realizado múltiples estudios comparativos que intentan aclarar cuáles son los factores que influyen en este suceso adverso. Métodos En nuestro caso hemos llevado a cabo un estudio retrospectivo analizando 476 pacientes, que han sido divididos en función de si habían sufrido un episodio de luxación o no y llevando a cabo un análisis estadístico de las posibles variables que podrían haber afectado en ello; diseñándose así un estudio de casos y controles. Resultados y conclusiones En nuestro estudio hemos obtenido que la enfermedad mental aumenta hasta 6 veces más el riesgo de sufrir un episodio de luxación tras someterse al paciente a una artroplastia de cadera por fractura (OR 6,429; IC 95% 1,568 - 26,361), al igual que el hecho de padecer una infección post-quirúrgica (OR 11,667; IC 95% 2,147 - 63,394). No obstante, sería adecuado realizar más estudios para su confirmación, al igual que el hecho de realizar estudios con un mayor tamaño muestral podrían apoyar o rebatir nuestros hallazgos. (AU)


Introduction Dislocation after a hip arthroplasty is a terrible complication that has been present since the technique was developed. Many studies have been developed in order to see which risk factors affect on this adverse effect. Methods We have made a retrospective study, analysing 476 patients. They have been divided in two groups, one if they have suffered from prosthetic hip dislocation and the other if they have not. After that, we did a stadistical analysys of posible risk factors, designing a case-control study. Results and conclusión In our study, we have found that mental illness increseases up to 6 times the risk of suffering a hip dislocation (OR 6,429; IC 95% 1,568 - 26,361). We also found relation with suffering from an acu-te infection (OR 11,667; IC 95% 2,147 - 63,394). However, more studies, or with a bigger popula-tion should be performed in order to make a statement. (AU)


Assuntos
Humanos , Fraturas do Colo Femoral/complicações , Artroplastia de Quadril , Luxação do Quadril , Estudos Retrospectivos , Estudos de Casos e Controles
7.
Polymers (Basel) ; 14(23)2022 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-36501637

RESUMO

In this work, the formation of laser-induced periodic surface structures (LIPSS) on the surfaces of thin films of poly(ethylene terephthalate) (PET) and PET reinforced with expanded graphite (EG) was studied. Laser irradiation was carried out by ultraviolet (265 nm) and near-infrared (795 nm) femtosecond laser pulses, and LIPSS were formed in both materials. In all cases, LIPSS had a period close to the irradiation wavelength and were formed parallel to the polarization of the laser beam, although, in the case of UV irradiation, differences in the formation range were observed due to the different thermal properties of the neat polymer in comparison to the composite. To monitor the modification of the physicochemical properties of the surfaces after irradiation as a function of the laser wavelength and of the presence of the filler, different techniques were used. Contact angle measurements were carried out using different reference liquids to measure the wettability and the solid surface free energies. The initially hydrophilic surfaces became more hydrophilic after ultraviolet irradiation, while they evolved to become hydrophobic under near-infrared laser irradiation. The values of the surface free energy components showed changes after nanostructuring, mainly in the polar component. Additionally, for UV-irradiated surfaces, adhesion, determined by the colloidal probe technique, increased, while, for NIR irradiation, adhesion decreased. Finally, nanomechanical properties were measured by the PeakForce Quantitative Nanomechanical Mapping method, obtaining maps of elastic modulus, adhesion, and deformation. The results showed an increase in the elastic modulus in the PET/EG, confirming the reinforcing action of the EG in the polymer matrix. Additionally, an increase in the elastic modulus was observed after LIPSS formation.

8.
Rev. esp. enferm. dig ; 114(2): 76-82, febrero 2022. tab, graf
Artigo em Inglês | IBECS | ID: ibc-205547

RESUMO

Introduction: thiopurines are used as maintenance therapy in patients with ulcerative colitis (UC). There are contradictory results regarding the relationship between adherence to treatment and risk of relapse.Objectives: to quantify and evaluate the trends in thiopurine prescription rates, and to determine the impact and risk factors of non-adherence.Methods: analytical, observational, retrospective study of UC patients taking thiopurines included in the ENEIDA single-center registry from October 2017 to October 2019. Adult patients in clinical remission at the beginning of the study on thiopurines maintenance treatment for at least 6 months before recruitment were included. Adherence was evaluated with an electronic pharmaceutical prescription system. Adherence was considered when 80 % or more of the prescribed medication was dispensed at the pharmacy. Kaplan-Meier curves and a regression model were used to examine year-to-year treatment dispensation, and to identify factors associated with non-adherence.Results: a total of 41 patients were included, of whom 71 % were males with a mean age of 44 (14), and 26.8 % were concomitantly managed with biological therapy. Overall, 22 % were non-adherent to thiopurines. No predictive factors of non-adherence were identified. Adherence rate did not correlate with disease activity during two years of follow-up (OR 1.6; 95 % CI = 0.3-9.1). Left-sided colitis and concomitant biological treatment were related with disease relapse (p ≤ 0.01).Conclusion: adherence to thiopurines in UC patients is high (78 %). Non-adherence is not related to clinical or pharmacological factors. Adherence rate was not associated with disease activity. (AU)


Assuntos
Humanos , Azatioprina/efeitos adversos , Azatioprina/uso terapêutico , Colite Ulcerativa/induzido quimicamente , Colite Ulcerativa/tratamento farmacológico , Mercaptopurina/efeitos adversos , Mercaptopurina/uso terapêutico , Estudos Retrospectivos
9.
Rev Esp Enferm Dig ; 114(2): 76-82, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33733802

RESUMO

INTRODUCTION: thiopurines are used as maintenance therapy in patients with ulcerative colitis (UC). There are contradictory results regarding the relationship between adherence to treatment and risk of relapse. OBJECTIVES: to quantify and evaluate the trends in thiopurine prescription rates, and to determine the impact and risk factors of non-adherence. METHODS: analytical, observational, retrospective study of UC patients taking thiopurines included in the ENEIDA single-center registry from October 2017 to October 2019. Adult patients in clinical remission at the beginning of the study on thiopurines maintenance treatment for at least 6 months before recruitment were included. Adherence was evaluated with an electronic pharmaceutical prescription system. Adherence was considered when 80 % or more of the prescribed medication was dispensed at the pharmacy. Kaplan-Meier curves and a regression model were used to examine year-to-year treatment dispensation, and to identify factors associated with non-adherence. RESULTS: a total of 41 patients were included, of whom 71 % were males with a mean age of 44 (14), and 26.8 % were concomitantly managed with biological therapy. Overall, 22 % were non-adherent to thiopurines. No predictive factors of non-adherence were identified. Adherence rate did not correlate with disease activity during two years of follow-up (OR 1.6; 95 % CI = 0.3-9.1). Left-sided colitis and concomitant biological treatment were related with disease relapse (p ≤ 0.01). CONCLUSION: adherence to thiopurines in UC patients is high (78 %). Non-adherence is not related to clinical or pharmacological factors. Adherence rate was not associated with disease activity.


Assuntos
Colite Ulcerativa , Adulto , Azatioprina/efeitos adversos , Azatioprina/uso terapêutico , Colite Ulcerativa/induzido quimicamente , Colite Ulcerativa/tratamento farmacológico , Feminino , Humanos , Masculino , Mercaptopurina/efeitos adversos , Mercaptopurina/uso terapêutico , Prevalência , Recidiva , Estudos Retrospectivos
10.
Sensors (Basel) ; 21(21)2021 Oct 22.
Artigo em Inglês | MEDLINE | ID: mdl-34770325

RESUMO

Composites have added new dimensions to the design and construction of buildings and structures. One of the wider spread composite applications in the construction industry is composite beams or pillars, which can be manufactured through pultrusion processes. These types of construction elements are usually used to withstand the weight of large loads, so their integrity must be guaranteed. Due to optical sensors' advantages over their electrical counterparts-small sizes, low weight, non-conductive, and immunity to electromagnetic interference-and FBGs having an outstanding position among optical fibre sensors-due to their multiplexation capability and relatively easy monitoring-in this study, we propose the integration of FBG sensors for the observation and analysis of the integrity of structures made with composite beams over time. The validation test results showed the successful embedding integration of FBG-based fibre optical sensors in an FRP pultrusion beam and strain transmission up to 7500 µÉ› from the composite test piece to the sensor. Additionally, we were able to anticipate the piece failure by the FBG spectrum deformation.


Assuntos
Tecnologia de Fibra Óptica , Fibras Ópticas
11.
Plant Dis ; 2021 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-34330174

RESUMO

During the winter 2018, symptoms of leaf chlorotic spots (Figure 1) followed by symptoms of leaf interveinal chlorosis (Figure 2) and severe chlorosis in basal leaves were observed in cucumber cv Laredo (Cucumis sativus) plants in three separated greenhouses, sited in distinct locations in southern Spain. In all cases, Bemisia tabaci populations were observed on infected plants. The symptomology observed was similar to that caused by whitefly transmitted Cucurbit yellow stunting disorder virus (CYSDV, genus Crinivirus, family Closteroviridae), which is usually found infecting cucumber plants in this geographical area (1). Samples from four different cucumber plants of distinct greenhouses were collected and tested for the presence of CYSDV. Total RNA was extracted from the samples using the NucleoSpin RNA Plant kit (Macherey-Nagel, Germany). Molecular detection of CYSDV was performed using the multiplex and degenerate primer RT-PCR method (2), specific to the region of the highly conserved RNA-dependent RNA polymerase (RdRp) gene of criniviruses, which also detects other criniviruses such as Lettuce infectious yellows virus (LIYV) and Beet pseudo-yellows virus (BPYV). Results indicated that the viral species CYSDV, LIYV and BPYV were not detected in the four cucurbit plant samples. In 2004, an emergent crinivirus (Cucurbit chlorotic yellows virus, CCYV), inducing symptoms similar to those caused by CYSDV, was described infecting cucurbits in Japan (3). Recently, CCYV was detected in 2011 in Greece (4) and in 2014 in Egypt (5) and Saudi Arabia (6). Therefore, the four RNA samples were tested for the presence of the CCYV by a RT-PCR method previously described (7). Specific primers were designed to amplify 336 nt of the capsid protein (CP) gene and 680 nt of the RdRp gene, located on CCYV genomic RNA 1 and RNA 2, respectively. In all cases, clear cDNA bands of both expected sizes were detected for each cucumber sample that were then purified and sequenced via Sanger technology. BLAST analysis of those sequences showed 99% identity with the nucleotide sequence of the CP and RpRd genes from the CCYV isolates from Greece (LT992911, LT992910), China (KY400633.1, KX118632) and Taiwan (JF502222). To our knowledge, this is the first report of CCYV infecting cucurbits in Spain. Probably CCYV has been spread throughout the Mediterranean basin, remaining undetected due to the yellowing symptom similarities between CYSDV and CCYV. Detection of the emergent virus CCYV in Spain represents a new threat for the horticultural area of southern Europe.

12.
Front Microbiol ; 12: 765310, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35003003

RESUMO

The worldwide, ecologically relevant lichen-forming genus Parmelia currently includes 41 accepted species, of which the Parmelia sulcata group (PSULgp) and the Parmelia saxatilis group (PSAXgp) have received considerable attention over recent decades; however, phycobiont diversity is poorly known in Parmelia s. lat. Here, we studied the diversity of Trebouxia microalgae associated with 159 thalli collected from 30 locations, including nine Parmelia spp.: P. barrenoae, P. encryptata, P. ernstiae, P. mayi, P. omphalodes, P. saxatilis, P. serrana, P. submontana, and P. sulcata. The mycobionts were studied by carrying out phylogenetic analyses of the nrITS. Microalgae genetic diversity was examined by using both nrITS and LSU rDNA markers. To evaluate putative species boundaries, three DNA species delimitation analyses were performed on Trebouxia and Parmelia. All analyses clustered the mycobionts into two main groups: PSULgp and PSAXgp. Species delimitation identified 13 fungal and 15 algal species-level lineages. To identify patterns in specificity and selectivity, the diversity and abundance of the phycobionts were identified for each Parmelia species. High specificity of each Parmelia group for a given Trebouxia clade was observed; PSULgp associated only with clade I and PSAXgp with clade S. However, the degree of specificity is different within each group, since the PSAXgp mycobionts were less specific and associated with 12 Trebouxia spp., meanwhile those of PSULgp interacted only with three Trebouxia spp. Variation-partitioning analyses were conducted to detect the relative contributions of climate, geography, and symbiotic partner to phycobiont and mycobiont distribution patterns. Both analyses explained unexpectedly high portions of variability (99 and 98%) and revealed strong correlations between the fungal and algal diversity. Network analysis discriminated seven ecological clusters. Even though climatic conditions explained the largest proportion of the variation among these clusters, they seemed to show indifference relative to climatic parameters. However, the cluster formed by P. saxatilis A/P. saxatilis B/Trebouxia sp. 2/Trebouxia sp. S02/Trebouxia sp. 3A was identified to prefer cold-temperate as well as humid summer environments.

13.
IMA Fungus ; 11(1): 27, 2020 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-33317627

RESUMO

Parmeliaceae is the largest family of lichen-forming fungi with a worldwide distribution. We used a target enrichment data set and a qualitative selection method for 250 out of 350 genes to infer the phylogeny of the major clades in this family including 81 taxa, with both subfamilies and all seven major clades previously recognized in the subfamily Parmelioideae. The reduced genome-scale data set was analyzed using concatenated-based Bayesian inference and two different Maximum Likelihood analyses, and a coalescent-based species tree method. The resulting topology was strongly supported with the majority of nodes being fully supported in all three concatenated-based analyses. The two subfamilies and each of the seven major clades in Parmelioideae were strongly supported as monophyletic. In addition, most backbone relationships in the topology were recovered with high nodal support. The genus Parmotrema was found to be polyphyletic and consequently, it is suggested to accept the genus Crespoa to accommodate the species previously placed in Parmotrema subgen. Crespoa. This study demonstrates the power of reduced genome-scale data sets to resolve phylogenetic relationships with high support. Due to lower costs, target enrichment methods provide a promising avenue for phylogenetic studies including larger taxonomic/specimen sampling than whole genome data would allow.

14.
Genome Biol Evol ; 12(10): 1858-1868, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-33151307

RESUMO

Lichen-forming fungi are known to produce a large number of secondary metabolites. Some metabolites are deposited in the cortical layer of the lichen thallus where they exert important ecological functions, such as UV filtering. The fact that closely related lineages of lichen-forming fungi can differ in cortical chemistry suggests that natural product biosynthesis in lichens can evolve independent from phylogenetic constraints. Usnic acid is one of the major cortical pigments in lichens. Here we used a comparative genomic approach on 46 lichen-forming fungal species of the Lecanoromycetes to elucidate the biosynthetic gene content and evolution of the gene cluster putatively responsible for the biosynthesis of usnic acid. Whole-genome sequences were gathered from taxa belonging to different orders and families of Lecanoromycetes, where Parmeliaceae is the most well-represented taxon, and analyzed with a variety of genomic tools. The highest number of biosynthetic gene clusters was found in Evernia prunastri, Pannoparmelia angustata, and Parmotrema austrosinense, respectively, and lowest in Canoparmelia nairobiensis, Bulbothrix sensibilis, and Hypotrachyna scytodes. We found that all studied species producing usnic acid contain the putative usnic acid biosynthetic gene cluster, whereas the cluster was absent in all genomes of species lacking usnic acid. The absence of the gene cluster was supported by an additional unsuccessful search for ß-ketoacylsynthase, the most conserved domain of the gene cluster, in the genomes of species lacking usnic acid. The domain architecture of this PKS cluster-homologous to the already known usnic acid PKS cluster (MPAS) and CYT450 (MPAO)-varies within the studied species, whereas the gene arrangement is highly similar in closely related taxa. We hypothesize that the ancestor of these lichen-forming fungi contained the putative usnic acid producing PKS cluster and that the gene cluster was lost repeatedly during the evolution of these groups. Our study provides insight into the genomic adaptations to the evolutionary success of these lichen-forming fungal species and sets a baseline for further exploration of biosynthetic gene content and its evolutionary significance.


Assuntos
Benzofuranos/metabolismo , Evolução Molecular , Genoma Fúngico , Parmeliaceae/genética , Policetídeo Sintases/genética , Rearranjo Gênico , Líquens/genética , Líquens/metabolismo , Família Multigênica , Parmeliaceae/metabolismo , Filogenia , Policetídeo Sintases/metabolismo
15.
Rev. Soc. Andal. Traumatol. Ortop. (Ed. impr.) ; 37(2): 17-27, abr.-jun. 2020.
Artigo em Espanhol | IBECS | ID: ibc-198463

RESUMO

El progreso en los sistemas de navegación ha supuesto un incremento en el uso de la cirugía navegada. La artroplastia de rodilla asistida por navegación permite alcanzar una alineación más precisa y facilita el correcto posicionamiento de los componentes protésicos, con una menor incidencia de valores atípicos, lo que podría traducirse en una mayor supervivencia de la prótesis y una menor tasa de revisión


Progress in computer navigation systems has led to an increase in the use of computer-assisted surgery. Computer-navegated knee arthroplasty allows for more accurate alignment and facilitates proper positioning of prosthetic components, with a lower incidence of outliers, which could result in increased prosthesis survivorship and a lower revision rate


Assuntos
Humanos , Artroplastia do Joelho/métodos , Cirurgia Assistida por Computador/métodos , Prótese do Joelho , Resultado do Tratamento
16.
Ann Vasc Surg ; 68: 185-191, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32422291

RESUMO

BACKGROUND: The main risk factor associated with basal cell carcinomas (BCCs) is believed to be exposure to ultraviolet radiation (UVR). In the case of lower limb BCC, the frequency is higher in women, possibly because of greater exposure of the leg to UVR. Chronic venous insufficiency (CVI), also more common in women, may have some association with leg BCCs. METHODS: We retrospectively evaluated the histopathological features of leg BCCs removed between 1993 and 2017 in a tertiary referral center. The patients' clinical data were obtained from medical records, considering, in particular, CVI. RESULTS: We selected 149 patients with leg BCCs, predominately occurring in elderly Caucasian women. Of those, 71 had a clinical diagnosis of CVI in whom the clinical tumor size and frequency of recurrences were significantly higher than patients without CVI. There was an association between clinical diagnosis of CVI and histological findings of (1) follicular induction in epidermis and (2) distal sweat duct hyperplasia. CONCLUSIONS: CVI, besides the already known UVR exposure, is probably associated with leg BCCs and may determine a worse BCC course.


Assuntos
Carcinoma Basocelular/etiologia , Perna (Membro)/irrigação sanguínea , Neoplasias Cutâneas/etiologia , Insuficiência Venosa/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Basocelular/patologia , Carcinoma Basocelular/cirurgia , Doença Crônica , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Fatores de Tempo , Resultado do Tratamento , Carga Tumoral , Insuficiência Venosa/diagnóstico
17.
Am J Case Rep ; 21: e920460, 2020 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-32047142

RESUMO

BACKGROUND The fibular fracture requires an anatomical reduction. When a malunion occurs, it can lead to a valgus deformity with an opening of the ankle mortise. CASE REPORT This case deals with a 23-year-old patient with pain and limited movement in the right ankle, caused by a fracture healed in an incorrect position, with shortening of the fibula and progressive displacement of the valgus, after surgery 12 months earlier for an ankle fracture. The patient underwent a corrective procedure consisting of extemporaneous lengthening of the fibula, with interposition of autologous bone graft and fixation using a compression plate. Six months after surgery, the patient did not present pain or limited movement, and was able to return to his habitual sporting activity. CONCLUSIONS Fibular-lengthening osteotomy is a procedure indicated for patients with malunion fracture of the distal fibula, with shortening and progressive valgus deformity. This surgery allows the restoration of the joint surface, reduces stress on the cartilage and prevents the development of arthropathy of the ankle.


Assuntos
Fraturas do Tornozelo/complicações , Alongamento Ósseo/métodos , Fíbula/fisiopatologia , Fíbula/cirurgia , Osteotomia/métodos , Transplante Ósseo , Fixação de Fratura , Humanos , Masculino , Adulto Jovem
18.
Farm. comunitarios (Internet) ; 11(3): 22-41, sept. 2019.
Artigo em Espanhol | IBECS | ID: ibc-186881

RESUMO

La prestación de servicios profesionales farmacéuticos asistenciales (SPFA) al paciente des-de la farmacia comunitaria ha de realizarse observando una serie de garantías sanitarias y legales previas que aseguren los derechos del paciente. Toda actuación en el ámbito de la salud de un paciente necesita su consentimiento libre y voluntario una vez que haya recibido la in-formación adecuada. Esta información que, como regla general, se proporcionará verbalmente (salvo en los casos de procedimientos invasivos, que son los que entrañan riesgos más graves), ha de ser veraz e incluir como mínimo la finalidad y la naturaleza de cada intervención, sus riesgos y sus consecuencias, y se debe comunicar al paciente de forma comprensible y adaptada a sus necesidades, de forma que le ayude a tomar decisiones de acuerdo con su propia y libre voluntad. De este modo, para que el paciente consienta que se le preste un SPFA ha de recibir previamente una información específica sobre dicho servicio. Aunque esta información se po-dría proporcionar solo verbalmente, al ser los SPFA servicios novedosos con los que el paciente no está familiarizado, es recomendable proporcionarla también por escrito ya que esta vía per-mite garantizar que se comunica de forma uniforme, comprensible, evitando equivocaciones y olvidos, y además el paciente tendrá más tiempo para estudiarla en su casa. Este artículo analiza la información mínima que se debe proporcionar a los pacientes y usuarios en la prestación de los SPFA. Además, muestra como ejemplo tanto la información que se proporciona al paciente en cinco de los SPFA que gestiona la aplicación SEFAC e_XPERT®, como un modelo de consen-timiento informado válido para dichos servicios y que incluye el resto de información necesaria que también se debe comunicar previamente al paciente


The provision of professional pharmaceutical care services (SPFA) to the patient from the community pharmacy must be carried out by observing a series of previous health and legal guarantees that ensure the rights of the patient. Any action in the area of a patient’s health requires his or her free and voluntary consent once he or she had received the appropriate information. This information will, as a general rule, be provided orally (except in the case of invasive procedures, which are the ones with the most serious risks), must be truthful and include at least the purpose and nature of each intervention, its risks and its consequences, and must be communicated to the patient in a way that is understandable and adapted to his or her needs, in a way that helps you make decisions according to your own free will. Thus, in order for the patient to consent to the provision of an SPFA, he must first receive specific information about that service. Although this information could be provided only verbally, as SPFAs are novel services with which the patient is not familiar, it’s advisable to provide it also in writing, as this way ensures that it communicates uniformly, comprehensively, avoiding mistakes and forgetfulness, and also that the patient will have more time to study it at home. This article discusses the minimum information to be provided to patients and users in the provision of SPFA. In addition, it shows, as an example, the information provided to the patient in five of the SPFA that manage the SEFAC e_XPERT®application, as well as an informed consent model which includes all other necessary information which must also be communicated to patient


Assuntos
Humanos , Assistência Farmacêutica/organização & administração , Farmácias , Serviços de Informação sobre Medicamentos , Informação de Saúde ao Consumidor , Tomada de Decisões , Autonomia Pessoal , Legislação de Medicamentos , Farmacêuticos/legislação & jurisprudência , Farmacêuticos/organização & administração
19.
JBJS Case Connect ; 9(3): e0277, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31365362

RESUMO

CASE: A 24-year-old female diagnosed with fibroblastic osteosarcoma of the patella underwent a total patellectomy and surgical reconstruction with a large bone-tendon allograft of the extensor mechanism and adjuvant chemotherapy. At 5 years' postoperative, the patient has adequate disease control and excellent joint function. CONCLUSIONS: Reconstruction with an extensor mechanism allograft is an appropriate alternative for patients with malignant patella tumors without tumor contamination of the joint, allowing for satisfactory knee function and disease control.


Assuntos
Neoplasias Ósseas/cirurgia , Osteossarcoma/cirurgia , Patela/transplante , Tendões/transplante , Neoplasias Ósseas/diagnóstico por imagem , Transplante Ósseo , Feminino , Humanos , Osteossarcoma/diagnóstico por imagem , Patela/diagnóstico por imagem , Adulto Jovem
20.
Genome Biol Evol ; 11(3): 721-730, 2019 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-30715356

RESUMO

Fungal reproduction is regulated by the mating-type (MAT1) locus, which typically comprises two idiomorphic genes. The presence of one or both allelic variants at the locus determines the reproductive strategy in fungi-homothallism versus heterothallism. It has been hypothesized that self-fertility via homothallism is widespread in lichen-forming fungi. To test this hypothesis, we characterized the MAT1 locus of 41 genomes of lichen-forming fungi representing a wide range of growth forms and reproductive strategies in the class Lecanoromycetes, the largest group of lichen-forming fungi. Our results show the complete lack of genetic homothallism suggesting that lichens evolved from a heterothallic ancestor. We argue that this may be related to the symbiotic lifestyle of these fungi, and may be a key innovation that has contributed to the accelerated diversification rates in this fungal group.


Assuntos
Genes Fúngicos Tipo Acasalamento/genética , Genoma Fúngico , Líquens/genética , Reprodução Assexuada , Simbiose
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