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1.
Emerg Med J ; 41(6): 342-349, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38238065

RESUMO

INTRODUCTION: The full impact of an acute illness on subsequent health is seldom explicitly discussed with patients. Patients' estimates of their likely prognosis have been explored in chronic care settings and can contribute to the improvement of clinical outcomes and patient satisfaction. This scoping review aimed to identify studies of acutely ill patients' estimates of their outcomes and potential benefits for their care. METHODS: A search was conducted in PubMed, Embase, Web of Science and Google Scholar, using terms related to prognostication and acute care. After removal of duplicates, all articles were assessed for relevance by six investigator pairs; disagreements were resolved by a third investigator. Risk of bias was assessed according to the Cochrane Handbook for Systematic Reviews of Interventions. RESULTS: Our search identified 3265 articles, of which 10 were included. The methods of assessing self-prognostication were very heterogeneous. Patients seem to be able to predict their need for hospital admission in certain settings, but not their length of stay. The severity of their symptoms and the burden of their disease are often overestimated or underestimated by patients. Patients with severe health conditions and their relatives tend to be overoptimistic about the likely outcome. CONCLUSION: The understanding of acutely ill patients of their likely outcomes and benefits of treatment has not been adequately studied and is a major knowledge gap. Limited published literature suggests patients may be able to predict their need for hospital admission. Illness perception may influence help-seeking behaviour, speed of recovery and subsequent quality of life. Knowledge of patients' self-prognosis may enhance communication between patients and their physicians, which improves patient-centred care.


Assuntos
Satisfação do Paciente , Humanos , Doença Aguda , Prognóstico
2.
Diabet Med ; 40(6): e15070, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36797537

RESUMO

AIMS: To investigate the change in glycated haemoglobin (HbA1c), hypoglycaemia awareness and diabetes-related distress in people with type 1 diabetes (T1D) using FreeStyle Libre (FSL) over a 2-year follow-up period. METHODS: FSL user data from U.K wide hospitals collected during routine clinical care were analysed. People living with T1D were categorised into four groups based on the duration of follow-up. Group I (< 1 year, n = 6940), group II (1 to 1.5 years, n = 662), group III (1.5 to 2 years, n = 385), and group IV (> 2 years, n = 642). The t-test was used to compare the baseline and follow-up HbA1c, GOLD score (a measure of hypoglycaemia awareness) and diabetes-related distress scale (DDS score) (quality of life measure). RESULTS: The study consisted of 16,834 people, with follow-up data available for 8,629 participants. The change in HbA1c, GOLD and DDS score from baseline within the follow-up sub-groups (group I vs group II vs group III vs group IV) was HbA1c (-6 vs -6 vs -4 vs -4 mmol/mol; p < 0.001) (-0.55 vs -0.55 vs -0.37 vs -0.37 %), GOLD score (-0.31 vs -0.45 vs -0.26 vs -0.42; p < 0.0001 group I, II, IV and p 0.07 group III), and DDS score(-0.59 vs -0.58 vs -0.63 vs -0.50; p < 0.001), respectively. CONCLUSIONS: In people with T1D, FSL use resulted in a sustained improvement in HbA1c, hypoglycaemia awareness and diabetes-related distress for over two years.


Assuntos
Diabetes Mellitus Tipo 1 , Hipoglicemia , Humanos , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Glicemia , Hemoglobinas Glicadas , Qualidade de Vida , Automonitorização da Glicemia/métodos , Controle Glicêmico , Hipoglicemia/induzido quimicamente , Hipoglicemia/epidemiologia , Hipoglicemia/prevenção & controle
3.
Evol Dev ; 24(3-4): 92-108, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35708164

RESUMO

Directional asymmetry is a systematic difference between the left and right sides for structures with bilateral symmetry or a systematic differentiation among repeated parts for complex symmetry. This study explores factors that produce directional asymmetry in the flower of Iris pumila, a structure with complex symmetry that makes it possible to investigate multiple such factors simultaneously. The shapes and sizes of three types of floral organs, the falls, standards, and style branches, were quantified using the methods of geometric morphometrics. For each flower, this study recorded the compass orientations of floral organs as well as their anatomical orientations relative to the two spathes subtending each flower. To characterize directional asymmetry at the whole-flower level, differences in the average sizes and shapes according to compass orientation and relative orientation were computed, and the left-right asymmetry was also evaluated for each individual organ. No size or shape differences within flowers were found in relation to anatomical position; this may relate to the terminal position of flowers in Iris pumila, suggesting that there may be no adaxial-abaxial polarity, which is very prominent in many other taxa. There was clear directional asymmetry of shape in relation to compass orientation, presumably driven by a consistent environmental gradient such as solar irradiance. There was also clear directional asymmetry between left and right halves of every floral organ, most likely related to the arrangement of organs in the bud. These findings indicate that different factors are acting to produce directional asymmetry at different levels. In conventional analyses not recording flower orientations, these effects would be impossible to disentangle from each other and would probably be included as part of fluctuating asymmetry.


Assuntos
Flores , Animais
4.
Diabet Med ; 39(11): e14942, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36054655

RESUMO

AIMS: The aim of this study was to understand the relationship between time in range (TIR) achieved using the isCGM with changes in glycaemic control, diabetes-related distress (DRD) and resource utilisation in people living with diabetes. METHODS: Clinicians from 106 National Health System (NHS) UK hospitals submitted isCGM user baseline and follow-up data in a web-based tool held within the UK NHS network. Linear regression analysis was used to identify the relationship between follow-up glucose TIR (3.9-10 mmol/L) categories (TIR% 50-70 and TIR% >70) with change in haemoglobin A1c (HbA1c), DRD and Gold score (measure of hypoglycaemia unawareness, where a score ≥4 suggests impaired awareness of hypoglycaemia). RESULTS: Of 16,427 participants, 1241 had TIR follow-up data available. In this cohort, the mean TIR was 44.8% (±22.5). With the use of isCGM, at 7.9 months mean follow-up, improvements were observed in HbA1c (-6.9 [13.5] mmol/mol, p < 0.001), Gold score (-0.35 [1.5], p < 0.001) and Diabetes Distress Screening (-0.73 [1.23], p < 0.001). In the regression analysis restricted to people living with type 1 diabetes, TIR% 50-70 was associated with a -8.9 mmol/mol (±0.6, p < 0.001) reduction in HbA1c; TIR% >70 with a -14 mmol/mol (±0.8, p < 0.001) reduction in HbA1c. Incremental improvement in TIR% was also associated with significant improvements in Gold score and DRD. TIR% >70 was associated with no hospital admissions due to hypoglycaemia, hyperglycaemia/diabetic ketoacidosis, and a 60% reduction in the paramedic callouts and 77% reduction in the incidence of severe hypoglycaemia. CONCLUSION: In a large cohort of UK isCGM users, we demonstrate a significant association of higher TIR% with improvement in HbA1c, hypoglycaemia awareness, DRD and resource utilisation.


Assuntos
Diabetes Mellitus Tipo 1 , Hipoglicemia , Glicemia , Automonitorização da Glicemia , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/epidemiologia , Hemoglobinas Glicadas/análise , Controle Glicêmico , Ouro , Humanos , Hipoglicemia/epidemiologia , Hipoglicemia/prevenção & controle , Hipoglicemiantes
5.
Pediatr Res ; 92(4): 1026-1033, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35102300

RESUMO

BACKGROUND: Sudden infant death syndrome (SIDS) is still one of the leading causes of postnatal infant death in developed countries. The occurrence of SIDS is described by a multifactorial etiology that involves the respiratory control system including chemoreception. It is still unclear whether genetic variants in genes involved in respiratory chemoreception might play a role in SIDS. METHODS: The exome data of 155 SIDS cases were screened for variants within 11 genes described in chemoreception. Pathogenicity of variants was assigned based on the assessment of variant types and in silico protein predictions according to the current recommendations of the American College of Medical Genetics and Genomics. RESULTS: Potential pathogenic variants in genes encoding proteins involved in respiratory chemoreception could be identified in 5 (3%) SIDS cases. Two of the variants (R137S/A188S) were found in the KNCJ16 gene, which encodes for the potassium channel Kir5.1, presumably involved in central chemoreception. Electrophysiologic analysis of these KCNJ16 variants revealed a loss-of-function for the R137S variant but no obvious impairment for the A188S variant. CONCLUSIONS: Genetic variants in genes involved in respiratory chemoreception may be a risk factor in a fraction of SIDS cases and may thereby contribute to the multifactorial etiology of SIDS. IMPACT: What is the key message of your article? Gene variants encoding proteins involved in respiratory chemoreception may play a role in a minority of SIDS cases. What does it add to the existing literature? Although impaired respiratory chemoreception has been suggested as an important risk factor for SIDS, genetic variants in single genes seem to play a minor role. What is the impact? This study supports previous findings, which indicate that genetic variants in single genes involved in respiratory control do not have a dominant role in SIDS.


Assuntos
Morte Súbita do Lactente , Lactente , Humanos , Morte Súbita do Lactente/genética , Morte Súbita do Lactente/epidemiologia , Exoma , Sequenciamento do Exoma , Estudos de Casos e Controles , Canais de Potássio
6.
Syst Biol ; 69(5): 863-883, 2020 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-31985800

RESUMO

In recent years, there has been controversy whether multidimensional data such as geometric morphometric data or information on gene expression can be used for estimating phylogenies. This study uses simulations of evolution in multidimensional phenotype spaces to address this question and to identify specific factors that are important for answering it. Most of the simulations use phylogenies with four taxa, so that there are just three possible unrooted trees and the effect of different combinations of branch lengths can be studied systematically. In a comparison of methods, squared-change parsimony performed similarly well as maximum likelihood, and both methods outperformed Wagner and Euclidean parsimony, neighbor-joining and UPGMA. Under an evolutionary model of isotropic Brownian motion, phylogeny can be estimated reliably if dimensionality is high, even with relatively unfavorable combinations of branch lengths. By contrast, if there is phenotypic integration such that most variation is concentrated in one or a few dimensions, the reliability of phylogenetic estimates is severely reduced. Evolutionary models with stabilizing selection also produce highly unreliable estimates, which are little better than picking a phylogenetic tree at random. To examine how these results apply to phylogenies with more than four taxa, we conducted further simulations with up to eight taxa, which indicated that the effects of dimensionality and phenotypic integration extend to more than four taxa, and that convergence among internal nodes may produce additional complications specifically for greater numbers of taxa. Overall, the simulations suggest that multidimensional data, under evolutionary models that are plausible for biological data, do not produce reliable estimates of phylogeny. [Brownian motion; gene expression data; geometric morphometrics; morphological integration; squared-change parsimony; phylogeny; shape; stabilizing selection.].


Assuntos
Classificação/métodos , Modelos Biológicos , Filogenia , Simulação por Computador
7.
Ultraschall Med ; 42(3): e21-e30, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31648347

RESUMO

BACKGROUND: B-lines on lung ultrasound are seen in decompensated heart failure, but their diagnostic value in consecutive patients in the acute setting is not clear. Chest CT is the superior method to evaluate interstitial lung disease, but no studies have compared lung ultrasound directly to congestion on chest CT. PURPOSE: To examine whether congestion on lung ultrasound equals congestion on a low-dose chest CT as the gold standard. MATERIALS AND METHODS: In a single-center, prospective observational study we included consecutive patients ≥ 50 years of age in the emergency department. Patients were concurrently examined by lung ultrasound and chest CT. Congestion on lung ultrasound was examined in three ways: I) the total number of B-lines, II) ≥ 3 B-lines bilaterally, III) ≥ 3 B-lines bilaterally and/or bilateral pleural effusion. Congestion on CT was assessed by two specialists blinded to all other data. RESULTS: We included 117 patients, 27 % of whom had a history of heart failure and 52 % chronic obstructive pulmonary disease. Lung ultrasound and CT were performed within a median time of 79.0 minutes. Congestion on CT was detected in 32 patients (27 %). Method I had an optimal cut-point of 7 B-lines with a sensitivity of 72 % and a specificity of 81 % for congestion. Method II had 44 % sensitivity, and 94 % specificity. Method III had a sensitivity of 88 % and a specificity of 85 %. CONCLUSION: Pulmonary congestion in consecutive dyspneic patients ≥ 50 years of age is better diagnosed if lung ultrasound evaluates both B-lines and pleural effusion instead of B-lines alone.


Assuntos
Insuficiência Cardíaca , Edema Pulmonar , Serviço Hospitalar de Emergência , Insuficiência Cardíaca/diagnóstico por imagem , Humanos , Pulmão/diagnóstico por imagem , Edema Pulmonar/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Ultrassonografia
8.
J Neurol Neurosurg Psychiatry ; 91(1): 49-57, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31690697

RESUMO

OBJECTIVE: Sensory neuropathies (SNs) are often classified as idiopathic even if immunological mechanisms can be suspected. Antibodies against the intracellular domain of the fibroblast growth factor receptor 3 (FGFR3) possibly identify a subgroup of SN affecting mostly the dorsal root ganglion (DRG). The aim of this study was to identify the frequency of anti-FGFR3 antibodies and the associated clinical pattern in a large cohort of patients with SN. METHODS: A prospective, multicentric, European and Brazilian study included adults with pure SN. Serum anti-FGRF3 antibodies were analysed by ELISA. Detailed clinical and paraclinical data were collected for each anti-FGFR3-positive patient and as control for anti-FGFR3-negative patients from the same centres ('center-matched'). RESULTS: Sixty-five patients out of 426 (15%) had anti-FGFR3 antibodies, which were the only identified autoimmune markers in 43 patients (66%). The neuropathy was non-length dependent in 89% and classified as sensory neuronopathy in 64%, non-length-dependent small fibre neuropathy in 17% and other neuropathy in 19%. Specific clinical features occurred after 5-6 years of evolution including frequent paresthesia, predominant clinical and electrophysiological involvement of the lower limbs, and a less frequent mixed large and small fibre involvement. Brazilians had a higher frequency of anti-FGFR3 antibodies than Europeans (36% vs 13%, p<0.001), and a more frequent asymmetrical distribution of symptoms (OR 169, 95% CI 3.4 to 8424). CONCLUSIONS: Anti-FGFR3 antibodies occur in a subgroup of SN probably predominantly affecting the DRG. Differences between Europeans and Brazilians could suggest involvement of genetic or environmental factors.


Assuntos
Autoanticorpos/imunologia , Neuropatia Hereditária Motora e Sensorial/imunologia , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/imunologia , Adulto , Autoanticorpos/análise , Brasil , Estudos de Coortes , Eletrodiagnóstico , Europa (Continente) , Feminino , Neuropatia Hereditária Motora e Sensorial/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/patologia , Estudos Prospectivos
9.
Evol Dev ; 20(1): 29-39, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29243890

RESUMO

The astounding variety of angiosperm flower morphologies has evolved in response to many selective forces. Flower development is highly coordinated and involves developmental associations between size and shape, ontogenetic allometry, which in turn affect the morphology of mature flowers. Although ontogenetic allometries can act as a developmental constraint and may influence adaptive evolution, allometries can evolve themselves and may change rapidly in response to selection. We explored the evolution of ontogenetic allometry in the flowers of 11 species of Loasoideae. Seven species belong to Caiophora, which radiated recently in the central Andes, and contains species that are pollinated by bees, hummingbirds, and small rodents. According to a previous study, the diversification of Caiophora involved departures from simple allometric scaling, but the changes to allometry that enabled flower diversification have not been explored yet. We characterized the ontogenetic allometry of each species with the methods of geometric morphometrics. We studied the evolution of allometries by constructing allometric spaces, in which the allometry of each species is represented by a point and the arrangement of points indicates the relations among allometric trajectories. To examine the history of changes of ontogenetic allometries, we projected the phylogeny into the allometric spaces. Inspection of allometric spaces suggests that ontogenetic variation is limited to a few dominant features. The allometries of the two main functional flower parts under study differ in their evolutionary labilities, and patterns of variation reflect pollination systems, differences in structural organization, and abiotic environmental factors.


Assuntos
Abelhas/fisiologia , Evolução Biológica , Flores/anatomia & histologia , Flores/fisiologia , Animais , Tamanho do Órgão , Filogenia , Polinização
10.
New Phytol ; 218(3): 1049-1060, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29460505

RESUMO

Insights into the evolution of plant cell walls have important implications for comprehending these diverse and abundant biological structures. In order to understand the evolving structure-function relationships of the plant cell wall, it is imperative to trace the origin of its different components. The present study is focused on plant 1,4-ß-xylan, tracing its evolutionary origin by genome and transcriptome mining followed by phylogenetic analysis, utilizing a large selection of plants and algae. It substantiates the findings by heterologous expression and biochemical characterization of a charophyte alga xylan synthase. Of the 12 known gene classes involved in 1,4-ß-xylan formation, XYS1/IRX10 in plants, IRX7, IRX8, IRX9, IRX14 and GUX occurred for the first time in charophyte algae. An XYS1/IRX10 ortholog from Klebsormidium flaccidum, designated K. flaccidumXYLAN SYNTHASE-1 (KfXYS1), possesses 1,4-ß-xylan synthase activity, and 1,4-ß-xylan occurs in the K. flaccidum cell wall. These data suggest that plant 1,4-ß-xylan originated in charophytes and shed light on the origin of one of the key cell wall innovations to occur in charophyte algae, facilitating terrestrialization and emergence of polysaccharide-based plant cell walls.


Assuntos
Parede Celular/metabolismo , Carofíceas/enzimologia , Pentosiltransferases/metabolismo , Células Vegetais/metabolismo , Motivos de Aminoácidos , Vias Biossintéticas , Carofíceas/genética , Evolução Molecular , Células HEK293 , Humanos , Pentosiltransferases/química , Filogenia
11.
J Evol Biol ; 31(2): 197-210, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29134739

RESUMO

Fluctuating asymmetry (FA) is widely used to quantify developmental instability (DI) in ecological and evolutionary studies. It has long been recognized that FA may not exclusively originate from DI for sessile organisms such as plants, because phenotypic plasticity in response to heterogeneities in the environment might also produce FA. This study provides the first empirical evidence for this hypothesis. We reasoned that solar irradiance, which is greater on the southern side than on the northern side of plants growing in the temperate zone of the Northern Hemisphere, would cause systematic morphological differences and asymmetry associated with the orientation of plant parts. We used geometric morphometrics to characterize the size and shape of flower parts in Iris pumila grown in a common garden. The size of floral organs was not significantly affected by orientation. Shape and particularly its asymmetric component differed significantly according to orientation for three different floral parts. Orientation accounted for 10.4% of the total shape asymmetry within flowers in the falls, for 11.4% in the standards and for 2.2% in the style branches. This indicates that phenotypic plasticity in response to a directed environmental factor, most likely solar irradiance, contributes to FA of flowers under natural conditions. That FA partly results from phenotypic plasticity and not just from DI needs to be considered by studies of FA in plants and other sessile organisms.


Assuntos
Adaptação Fisiológica , Flores/crescimento & desenvolvimento , Gênero Iris/crescimento & desenvolvimento , Luz Solar
13.
Paediatr Anaesth ; 28(9): 780-787, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30004614

RESUMO

BACKGROUND: Over the last decade, cuffed endotracheal tubes are increasingly used in pediatric anesthesia and also in pediatric intensive care. However, the smaller inner diameter of cuffed endotracheal tubes and, implicitly, the increased endotracheal tube resistance is still a matter of debate. AIMS: This in vitro study investigated work of breathing and inspiratory airway pressures in cuffed and uncuffed endotracheal tubes and the impact of pressure support ventilation and automatic tube compensation. METHODS: In 5 simulated neonatal and pediatric lung models, the Active Servo Lung 5000 and an intensive care ventilator were used to quantify the differences in work of breathing under spontaneous breathing (with and without pressure support ventilation and automatic tube compensation) between cuffed and uncuffed endotracheal tubes. Additionally, differences in inspiratory airway pressures, measured either proximal or distal of the endotracheal tube, between cuffed and uncuffed endotracheal tubes under mechanical ventilation were investigated. RESULTS: Work of breathing was overall 10.27% [95% confidence interval 9.01-11.94] higher with cuffed than with uncuffed endotracheal tubes and was dramatically reduced by 34.19% [95% confidence interval 31.61-35.25] with the application of pressure support. Automatic tube compensation almost diminished work of breathing differences between the 2 endotracheal tube types in nearly all pediatric lung models. Peak inspiratory and mean airway pressures measured at the proximal endotracheal tube end revealed significantly higher values in cuffed than in uncuffed endotracheal tubes. However, these differences measured at the distal end of the endotracheal tube became minimal. CONCLUSION: This in vitro study confirmed significant differences in work of breathing and inspiratory pressures between cuffed and uncuffed endotracheal tubes. Work of breathing, however, is almost neutralized by pressure support ventilation with automatic tube compensation and distal inspiratory airway pressures that, from a clinical perspective, are not significantly increased.


Assuntos
Intubação Intratraqueal/instrumentação , Pulmão/fisiologia , Modelos Biológicos , Respiração com Pressão Positiva/instrumentação , Trabalho Respiratório/fisiologia , Resistência das Vias Respiratórias , Criança , Desenho de Equipamento , Humanos , Pulmão/anatomia & histologia , Volume de Ventilação Pulmonar , Ventiladores Mecânicos
14.
Sensors (Basel) ; 18(8)2018 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-30126085

RESUMO

Respiratory Rate (RR) is the best marker to indicate deterioration but measurement are often inaccurate. The RespiraSense™ is a non-invasive, wireless, body worn, motion-tolerant and continuous respiratory rate monitor. We aimed to determine whether the performance of RespiraSense™ was equivalent to that of a gold standard measurement technique of capnography and the industry standard of manual counts. RespiraSense™ measures respiratory rate and transmit signals wirelessly to a tablet device. We measured respiratory rate in 24 emergency admissions to an Acute Medical Unit in the UK. Patients were observed for two hours. Manual counts were undertaken every 15 min and compared to measurements with capnography and RespiraSense™. Data from 17 patients admitted as medical emergencies was evaluated. For measurements obtained at rest a mean RR of 19.3 (SD 4.89) for manual measurements compared to mean RR of 20.2 (SD 4.54) for measurements obtained with capnography and mean RR of 19.8 (SD 4.52) with RespiraSense™. At rest, RespiraSense™ has a bias of 0.38 and limits of agreement of 1.0 to 1.8 bpm, when compared to the capnography derived RR. Measurements were within pre-defined limits of error at rest. Continuous measurement of RR with RespiraSense™ in patients admitted as acute emergencies is both feasible and reliable.


Assuntos
Cuidados Críticos/métodos , Monitorização Fisiológica/instrumentação , Taxa Respiratória , Idoso , Capnografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica/normas , Reprodutibilidade dos Testes
15.
Phytopathology ; 107(5): 537-544, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28095207

RESUMO

Trichoderma spp. are opportunistic fungi some of which are commonly present in the rhizosphere. Several species, such as T. virens, are also efficient biocontrol agents against phytopathogenic fungi and exert beneficial effects on plants. These effects are the consequence of interactions between Trichoderma and plant roots, which trigger enhanced plant growth and induce plant resistance. We have previously shown that T. virens I10 expresses two endopolygalacturonase genes, tvpg1 and tvpg2, during the interaction with plant roots; tvpg1 is inducible while tvpg2 is constitutively transcribed. Using the same system, the tomato polygalacturonase-inhibitor gene Lepgip1 was induced at the same time as tvpg1. Here we show by gene disruption that TvPG2 performs a regulatory role on the inducible tvpg1 gene and in triggering the plant immune response. A tvpg2-knockout strain fails to transcribe the inducible tvpg1 gene in neither in vitro in inducing media containing pectin or plant cell walls, nor during the in vivo interaction with tomato roots. Likewise, the in vivo induction of Lepgip1 does not occur, and its defense against the pathogen Botrytis cinerea is significantly reduced. Our data prove the importance of a T. virens constitutively produced endopolygalacturonase in eliciting plant induced systemic resistance against pathogenic fungi.


Assuntos
Botrytis/fisiologia , Resistência à Doença , Doenças das Plantas/microbiologia , Poligalacturonase/antagonistas & inibidores , Solanum lycopersicum/microbiologia , Trichoderma/enzimologia , Proteínas Fúngicas/antagonistas & inibidores , Proteínas Fúngicas/genética , Proteínas Fúngicas/metabolismo , Regulação da Expressão Gênica de Plantas , Técnicas de Inativação de Genes , Solanum lycopersicum/imunologia , Doenças das Plantas/imunologia , Raízes de Plantas/imunologia , Raízes de Plantas/microbiologia , Poligalacturonase/genética , Poligalacturonase/metabolismo , Genética Reversa , Trichoderma/genética
16.
Klin Padiatr ; 229(6): 329-334, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29132164

RESUMO

Individuals with Fanconi anemia (FA) have a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), yet the secondary somatic mutations lending to these malignancies remain to be further elucidated. We employed a next-generation sequencing myeloid neoplasia gene panel to determine the mutational spectrum of FA-related MDS/AML. Ten of 16 patients showed missense, nonsense, insertion or duplication mutations in 13 genes. In contrast to findings in MDS in the general population, mutations in genes involved in RNA splicing were rarely affected. Mutations in RUNX1 and genes of the RAS pathway appeared more instrumental in the pathogenesis of FA myeloid malignancies. RUNX1 mutations were associated with more advanced disease. Interestingly, one patient with refractory anemia with ring sideroblasts harbored the SF3B1 p.K700E mutation highlighting the mutation's causative role in MDS with ring sideroblasts even in the context of FA. On the whole, our findings implicate a different genetic architecture of FA MDS/AML from adult sporadic MDS. Notably, the genetic events resemble those described in pediatric MDS.


Assuntos
Anemia Sideroblástica/genética , Anemia de Fanconi/genética , Leucemia Mieloide Aguda/genética , Síndromes Mielodisplásicas/genética , Fatores de Processamento de RNA/genética , Adulto , Anemia Sideroblástica/patologia , Criança , Anemia de Fanconi/patologia , Humanos , Leucemia Mieloide Aguda/patologia , Mutação , Síndromes Mielodisplásicas/patologia , Fosfoproteínas , Fatores de Processamento de RNA/metabolismo
17.
Traffic ; 15(11): 1219-34, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25074762

RESUMO

We report that fluorescently tagged arabinogalactan glycosyltransferases target not only the Golgi apparatus but also uncharacterized smaller compartments when transiently expressed in Nicotiana benthamiana. Approximately 80% of AtGALT31A [Arabidopsis thaliana galactosyltransferase from family 31 (At1g32930)] was found in the small compartments, of which, 45 and 40% of AtGALT29A [Arabidopsis thaliana galactosyltransferase from family 29 (At1g08280)] and AtGlcAT14A [Arabidopsis thaliana glucuronosyltransferase from family 14 (At5g39990)] colocalized with AtGALT31A, respectively; in contrast, N-glycosylation enzymes rarely colocalized (3-18%), implicating a role of the small compartments in a part of arabinogalactan (O-glycan) biosynthesis rather than N-glycan processing. The dual localization of AtGALT31A was also observed for fluorescently tagged AtGALT31A stably expressed in an Arabidopsis atgalt31a mutant background. Further, site-directed mutagenesis of a phosphorylation site of AtGALT29A (Y144) increased the frequency of the protein being targeted to the AtGALT31A-localized small compartments, suggesting a role of Y144 in subcellular targeting. The AtGALT31A localized to the small compartments were colocalized with neither SYP61 (syntaxin of plants 61), a marker for trans-Golgi network (TGN), nor FM4-64-stained endosomes. However, 41% colocalized with EXO70E2 (Arabidopsis thaliana exocyst protein Exo70 homolog 2), a marker for exocyst-positive organelles, and least affected by Brefeldin A and Wortmannin. Taken together, AtGALT31A localized to small compartments that are distinct from the Golgi apparatus, the SYP61-localized TGN, FM4-64-stained endosomes and Wortmannin-vacuolated prevacuolar compartments, but may be part of an unconventional protein secretory pathway represented by EXO70E2 in plants.


Assuntos
Galactanos/metabolismo , Glicosiltransferases/metabolismo , Proteínas de Plantas/metabolismo , Via Secretória , Arabidopsis/enzimologia , Arabidopsis/metabolismo , Endossomos/metabolismo , Glicosiltransferases/genética , Mutação de Sentido Incorreto , Proteínas de Plantas/genética , Nicotiana/enzimologia , Nicotiana/metabolismo , Rede trans-Golgi/metabolismo
18.
Dev Genes Evol ; 226(3): 113-37, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-27038023

RESUMO

Allometry refers to the size-related changes of morphological traits and remains an essential concept for the study of evolution and development. This review is the first systematic comparison of allometric methods in the context of geometric morphometrics that considers the structure of morphological spaces and their implications for characterizing allometry and performing size correction. The distinction of two main schools of thought is useful for understanding the differences and relationships between alternative methods for studying allometry. The Gould-Mosimann school defines allometry as the covariation of shape with size. This concept of allometry is implemented in geometric morphometrics through the multivariate regression of shape variables on a measure of size. In the Huxley-Jolicoeur school, allometry is the covariation among morphological features that all contain size information. In this framework, allometric trajectories are characterized by the first principal component, which is a line of best fit to the data points. In geometric morphometrics, this concept is implemented in analyses using either Procrustes form space or conformation space (the latter also known as size-and-shape space). Whereas these spaces differ substantially in their global structure, there are also close connections in their localized geometry. For the model of small isotropic variation of landmark positions, they are equivalent up to scaling. The methods differ in their emphasis and thus provide investigators with flexible tools to address specific questions concerning evolution and development, but all frameworks are logically compatible with each other and therefore unlikely to yield contradictory results.


Assuntos
Anatomia/métodos , Tamanho Corporal , Variação Genética , Animais , Evolução Biológica , Humanos , Análise de Regressão
20.
Ann Bot ; 117(5): 889-904, 2016 04.
Artigo em Inglês | MEDLINE | ID: mdl-26884512

RESUMO

BACKGROUND AND AIMS: Brassicaceae is one of the most diversified families in the angiosperms. However, most species from this family exhibit a very similar floral bauplan. In this study, we explore the Brassicaceae floral morphospace, examining how corolla shape variation (an estimation of developmental robustness), integration and disparity vary among phylogenetically related species. Our aim is to check whether these floral attributes have evolved in this family despite its apparent morphological conservation, and to test the role of pollinators in driving this evolution. METHODS: Using geometric morphometric tools, we calculated the phenotypic variation, disparity and integration of the corolla shape of 111 Brassicaceae taxa. We subsequently inferred the phylogenetic relationships of these taxa and explored the evolutionary lability of corolla shape. Finally, we sampled the pollinator assemblages of every taxon included in this study, and determined their pollination niches using a modularity algorithm. We explore the relationship between pollination niche and the attributes of corolla shape. KEY RESULTS: Phylogenetic signal was weak for all corolla shape attributes. All taxa had generalized pollination systems. Nevertheless, they belong to different pollination niches. There were significant differences in corolla shape among pollination niches even after controlling for the phylogenetic relationship of the plant taxa. Corolla shape variation and disparity was significantly higher in those taxa visited mostly by nocturnal moths, indicating that this pollination niche is associated with a lack of developmental robustness. Corolla integration was higher in those taxa visited mostly by hovering long-tongued flies and long-tongued large bees. CONCLUSIONS: Corolla variation, integration and disparity were evolutionarily labile and evolved very recently in the evolutionary history of the Brassicaceae. These floral attributes were strongly related to the pollination niche. Even in a plant clade having a very generalized pollination system and exhibiting a conserved floral bauplan, pollinators can drive the evolution of important developmental attributes of corolla shape.


Assuntos
Evolução Biológica , Brassicaceae/fisiologia , Flores/fisiologia , Polinização , Animais , Biodiversidade , Flores/anatomia & histologia , Filogenia
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