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2.
ACS Appl Bio Mater ; 7(2): 626-645, 2024 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-36880799

RESUMO

DNA nanotechnology is a rapidly developing field that uses DNA as a building material for nanoscale structures. Key to the field's development has been the ability to accurately describe the behavior of DNA nanostructures using simulations and other modeling techniques. In this Review, we present various aspects of prediction and control in DNA nanotechnology, including the various scales of molecular simulation, statistical mechanics, kinetic modeling, continuum mechanics, and other prediction methods. We also address the current uses of artificial intelligence and machine learning in DNA nanotechnology. We discuss how experiments and modeling are synergistically combined to provide control over device behavior, allowing scientists to design molecular structures and dynamic devices with confidence that they will function as intended. Finally, we identify processes and scenarios where DNA nanotechnology lacks sufficient prediction ability and suggest possible solutions to these weak areas.


Assuntos
Inteligência Artificial , Nanoestruturas , Nanotecnologia/métodos , DNA/química , Nanoestruturas/uso terapêutico , Nanoestruturas/química , Simulação por Computador
3.
J Am Chem Soc ; 146(1): 358-367, 2024 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-38117542

RESUMO

DNA origami has been used as biotemplates for growing a range of inorganic materials to create novel organic-inorganic hybrid nanomaterials. Recently, the solution-based silicification of DNA has been used to grow thin silica shells on DNA origami. However, the silicification reaction is sensitive to the reaction conditions and often results in uncontrolled DNA origami aggregation, especially when growth of thicker silica layers is desired. Here, we investigated how site-specifically placed polynucleotide brushes influence the silicification of DNA origami. Our experiments showed that long DNA brushes, in the form of single- or double-stranded DNA, significantly suppress the aggregation of DNA origami during the silicification process. Furthermore, we found that double-stranded DNA brushes selectively promote silica growth on DNA origami surfaces. These observations were supported and explained by coarse-grained molecular dynamics simulations. This work provides new insights into our understanding of the silicification process on DNA and provides a powerful toolset for the development of novel DNA-based organic-inorganic nanomaterials.


Assuntos
Nanoestruturas , Polinucleotídeos , Conformação de Ácido Nucleico , DNA , Dióxido de Silício
4.
J Chem Ecol ; 49(9-10): 518-527, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37432514

RESUMO

Caterpillar salivary glucose oxidase (GOX) can function as both an elicitor or as an effector of plant defense responses depending upon the system. Treatment with GOX reduces the stomatal aperture of tomato and soybean leaves, thereby reducing the emission of volatile organic compounds (VOCs), that are important indirect defense responses of plants by attracting natural enemies of the caterpillars. Here we examined the effect of fungal GOX (fungal glucose oxidases have been used to determine specificity in defense response elicitation) on stomatal closure of maize leaves and on the volatile emission pattern whole maize plants. We also used salivary gland homogenate from wild-type and CRISPR-Cas9 Helicoverpa zea mutants deficient in GOX activity to determine the effect caterpillar saliva with and without GOX had on maize volatile emission. Collecting volatiles at 2-hour intervals allowed us to examine the changes in emission over time. Fungal GOX reduced the stomatal aperture in maize leaves, which may have influenced the observed significant reduction in total green leaf volatile (GLV) emission. Furthermore, fungal GOX significantly increased the emission of several key terpenes: linalool, DMNT, and Z-ß-farnesene from maize, while salivary gland homogenate from wild type (WT; GOX+) H. zea increased the emission of α-pinene, ß-pinene, and ocimene compared to H. zea unable to synthesize GOX. This study addressed a significant knowledge gap about the effect of GOX on maize volatiles and provides a baseline for further research on the effect of GOX on the regulation of terpene synthase genes and their relation to terpene volatile emission.


Assuntos
Mariposas , Terpenos , Animais , Terpenos/farmacologia , Zea mays/fisiologia , Glucose Oxidase , Folhas de Planta
5.
Asian J Anesthesiol ; 61(2): 39-45, 2023 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-37386924

RESUMO

Remimazolam is a recently approved benzodiazepine for procedural sedation in Taiwan. It is a new type of short-acting γ-aminobutyric acid receptor agonist with the characteristics of non-organ-dependent metabolism, no injection pain, and inactive metabolites. Remimazolam has a mild cardiopulmonary suppressive effect, showing good effectiveness and safety in clinical applications, especially in the elderly, critically ill patients, or patients with hepatic and renal insufficiency. This review aims to provide an overview of the specific basic and clinical pharmacology of remimazolam and provide scientific support for the clinical application of this novel sedative drug in procedural sedation.


Assuntos
Anestesia , Hipnóticos e Sedativos , Humanos , Idoso , Hipnóticos e Sedativos/farmacologia , Benzodiazepinas/farmacologia , Dor
6.
Nat Prod Rep ; 40(4): 840-865, 2023 04 26.
Artigo em Inglês | MEDLINE | ID: mdl-36727645

RESUMO

Covering: up to November 2022Plants shape terrestrial ecosystems through physical and chemical interactions. Plant-derived volatile organic compounds in particular influence the behavior and performance of other organisms. In this review, we discuss how vegetative plant volatiles derived from leaves, stems and roots are produced and released into the environment, how their production and release is modified by abiotic and biotic factors, and how they influence other organisms. Vegetative plant volatiles are derived from different biosynthesis and degradation pathways and are released via distinct routes. Both biosynthesis and release are regulated by other organisms as well as abiotic factors. In turn, vegetative plant volatiles modify the physiology and the behavior of a wide range of organisms, from microbes to mammals. Several concepts and frameworks can help to explain and predict the evolution and ecology of vegetative plant volatile emission patterns of specific pathways: multifunctionality of specialized metabolites, chemical communication displays and the information arms race, and volatile physiochemistry. We discuss how these frameworks can be leveraged to understand the evolution and expression patterns of vegetative plant volatiles. The multifaceted roles of vegetative plant volatiles provide fertile grounds to understand ecosystem dynamics and harness their power for sustainable agriculture.


Assuntos
Ecossistema , Compostos Orgânicos Voláteis , Animais , Plantas/metabolismo , Ecologia , Compostos Orgânicos Voláteis/química , Agricultura , Mamíferos
7.
J Exp Bot ; 74(9): 2811-2828, 2023 04 27.
Artigo em Inglês | MEDLINE | ID: mdl-36477789

RESUMO

Water is essential to plant growth and drives plant evolution and interactions with other organisms such as herbivores. However, water availability fluctuates, and these fluctuations are intensified by climate change. How plant water availability influences plant-herbivore interactions in the future is an important question in basic and applied ecology. Here we summarize and synthesize the recent discoveries on the impact of water availability on plant antiherbivore defense ecology and the underlying physiological processes. Water deficit tends to enhance plant resistance and escape traits (i.e. early phenology) against herbivory but negatively affects other defense strategies, including indirect defense and tolerance. However, exceptions are sometimes observed in specific plant-herbivore species pairs. We discuss the effect of water availability on species interactions associated with plants and herbivores from individual to community levels and how these interactions drive plant evolution. Although water stress and many other abiotic stresses are predicted to increase in intensity and frequency due to climate change, we identify a significant lack of study on the interactive impact of additional abiotic stressors on water-plant-herbivore interactions. This review summarizes critical knowledge gaps and informs possible future research directions in water-plant-herbivore interactions.


Assuntos
Ecologia , Herbivoria , Plantas , Fenótipo
8.
ACS Nano ; 16(11): 18168-18177, 2022 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-36252115

RESUMO

Polymer-grafted metal-organic frameworks (MOFs) can combine the properties of MOFs and polymers into a single, matrix-free composite material. Herein, we examine polymer-grafted MOF particles (using UiO-66 as a model system) to examine how the molecular weight, grafting density, and chemical functionality of the polymer graft affects the preparation of free-standing self-assembled MOF monolayers (SAMMs). The physical properties of the monolayers are influenced by the choice of polymer, and robust, flexible monolayers were achieved more readily with poly(methyl acrylate) when compared to poly(methyl methacrylate) or poly(benzyl methacrylate). Molecular dynamics simulations were carried out to provide insights into the orientation and ordering of MOFs in the monolayers with respect to MOF size, graft length, and hydrophobicity. The relationship between molecular weight and graft density of the polymer brush was investigated and related to polymer brush conformation, offering design rules for further optimizations to balance mechanical strength, MOF weight fraction, and processability for this class of hybrid materials.

9.
Pain Ther ; 11(2): 643-653, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35426567

RESUMO

INTRODUCTION: Patients undergoing upper extremity fracture surgery (UEFS) commonly suffer from unbearable acute pain. Opioids remain the mainstay of moderate to severe pain alleviation, although there is a growing concern regarding the increasing trend in misuse and abuse. This study aimed to observe the safety and efficacy of dinalbuphine sebacate (DS), a novel extended-release analgesic, along with multimodal analgesia (MMA) for post-UEFS pain control. METHODS: We retrospectively reviewed the records of patients undergoing UEFS between August 2020 and January 2021. Eligible patients were included and divided into two groups, depending on the analgesic regimen. In the DS group, 150 mg DS was administered intramuscularly at least 12 h pre-operatively, while in the conventional analgesia (CA) group, 40 mg parecoxib was given within 3 h before surgery. Intraoperative fentanyl administration was guided by the Analgesia Nociception Index System in both groups. For breakthrough pain, fentanyl was used as rescue medicine in the postanaesthesia care unit while tramadol and parecoxib were administered in the ward. RESULTS: Forty-nine patients were allocated to the DS group and 60 patients were allocated to the CA group. In comparison with the CA group, the proportion of patients requiring opioids for breakthrough pain post-operatively was significantly lower in the DS group (fentanyl: 31% vs. 68%, p < 0.001; tramadol: 27% vs. 70%, p < 0.001). The DS group also consumed lower amounts of post-operative rescue opioids. Furthermore, both mean worst and least pain scores were significantly lower in the DS group from post-operative day (POD) 1 to POD 5. There was no significant difference in intraoperative consumption of fentanyl or incidence of adverse events. CONCLUSION: This result suggests that extended-release DS is a suitable analgesic incorporated in MMA and a promising solution to the misuse and abuse of opioids.

10.
Trends Plant Sci ; 27(3): 287-300, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34580024

RESUMO

Stomata play a central role in plant responses to abiotic and biotic stresses. Existing knowledge regarding the roles of stomata in plant stress is centered on abiotic stresses and plant-pathogen interactions, but how stomata influence plant-herbivore interactions remains largely unclear. Here, we summarize the functions of stomata in plant-insect interactions and highlight recent discoveries of how herbivores manipulate plant stomata. Because stomata are linked to interrelated physiological processes in plants, herbivory-induced changes in stomatal dynamics might have cellular, organismic, and/or even community-level impacts. We summarize our current understanding of how stomata mediate plant responses to herbivory and environmental stimuli, propose how herbivores may influence these responses, and identify key knowledge gaps in plant-herbivore interactions.


Assuntos
Herbivoria , Plantas , Animais , Herbivoria/fisiologia , Insetos/fisiologia , Estômatos de Plantas , Estresse Fisiológico
11.
Colloids Surf B Biointerfaces ; 202: 111674, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33690062

RESUMO

Although considerable efforts have been made to vary the alkyl chain length in the quaternary ammonium compounds (QACs) for optimizing the antibacterial activity, only few researchers have systematically investigated the combinatory effects of alkyl chain length and another acryl monomers with the different chemical configuration on the antibacterial activity of the modified substrate. In this study, by surface grafting of various copolymeric brushes, different modified cotton substrates were prepared by surface-initiated reversible addition-fragmentation chain transfer (RAFT) polymerization reaction for exploring the effects of alkyl chain length of QACs and the fluorine content on antibacterial and anti-microbial adhesion characteristics. The quaternized monomers used were prepared by quaternization of 2-(dimethylamino) ethyl methacrylate (DMAEMA) with 1-bromooctane (DMAEMA + 8), and 1-bromopropane (DMAEMA + 3). The fluoro-containing monomer was 2,2,2-Trifluoroethyl methacrylate (TFEMA). Ethyl methacrylate (EMA) was also used for comparison. Results have shown that the optimal antibacterial and anti-microbial adhesion characteristics were noted on the substrates grafted with DMAEMA + 8 and TFEMA. This can be attributed to the enhanced degree of surface quaternization due to the hydrophobic interactions between the grafted TFEMA and DMAEMA + 8 chains, leading to an increase in antibacterial efficacy of modified cotton substrates.


Assuntos
Compostos de Amônio , Flúor , Antibacterianos/farmacologia , Metacrilatos , Polímeros , Compostos de Amônio Quaternário/farmacologia
12.
New Phytol ; 230(2): 793-803, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33459359

RESUMO

Herbivore-induced plant volatiles (HIPVs) are widely recognized as an ecologically important defensive response of plants against herbivory. Although the induction of this 'cry for help' has been well documented, only a few studies have investigated the inhibition of HIPVs by herbivores and little is known about whether herbivores have evolved mechanisms to inhibit the release of HIPVs. To examine the role of herbivore effectors in modulating HIPVs and stomatal dynamics, we conducted series of experiments combining pharmacological, surgical, genetic (CRISPR-Cas9) and chemical (GC-MS analysis) approaches. We show that the salivary enzyme, glucose oxidase (GOX), secreted by the caterpillar Helicoverpa zea on leaves, causes stomatal closure in tomato (Solanum lycopersicum) within 5 min, and in both tomato and soybean (Glycine max) for at least 48 h. GOX also inhibits the emission of several HIPVs during feeding by H. zea, including (Z)-3-hexenol, (Z)-jasmone and (Z)-3-hexenyl acetate, which are important airborne signals in plant defenses. Our findings highlight a potential adaptive strategy where an insect herbivore inhibits plant airborne defenses during feeding by exploiting the association between stomatal dynamics and HIPV emission.


Assuntos
Mariposas , Compostos Orgânicos Voláteis , Animais , Herbivoria , Insetos , Estômatos de Plantas
13.
Oecologia ; 195(2): 383-396, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33502629

RESUMO

Plants growing under reduced water availability can affect insect herbivores differently, in some instances benefitting them. However, the forces mediating these positive impacts remain mostly unclear. To identify how water availability impacts plant quality and multi-trophic interactions, we conducted manipulative field studies with two populations of the specialist herbivore Pieris rapae, and its host plant, Rorippa indica. We found that P. rapae larvae experienced higher survival on R. indica growing under low water availability compared with plants grown under high water availability. Higher survival of eggs and larvae was related to the reduced abundance of other herbivores and natural enemies. Water availability had differential impacts on other members of the herbivore community by altering plant quality. Low water availability decreased the quality of R. indica to most herbivores, as indicated by reduced abundance in the field and decreased relative growth rate in laboratory feeding assays. In contrast, P. rapae larval performance was not affected by sympatric R. indica grown under different water availability. These results indicate that local P. rapae populations possess physiological adaptations to overcome fluctuations in host quality. Our findings illustrate that reduced water availability is beneficial to a specialist herbivore but detrimental to most other herbivores. Our work highlights the complex effects of the arthropod communities associated with plants in determining the impacts of water availability on insect herbivores.


Assuntos
Artrópodes , Borboletas , Animais , Herbivoria , Insetos , Água
14.
Sci Rep ; 10(1): 16508, 2020 10 05.
Artigo em Inglês | MEDLINE | ID: mdl-33020593

RESUMO

The fall armyworm (FAW), Spodoptera frugiperda (Smith), is a major pest native to the Americas. A recent invasion of FAWs from Africa eastward to South Asia, the Indochina Peninsula, and mainland China has received much attention due to the considerable economic losses in agriculture. FAWs can rapidly colonise a new area, likely due to the wide range of host plants, good flying capability, and high egg production. Therefore, a convenient, quick, and accurate tool for FAW identification is urgently required to establish a FAW invasion management strategy. In this study, FAW-specific primers were designed to recognise FAWs on the basis of internal transcribed spacer 1 (ITS1). The results revealed the accurate FAW recognition of the three congeneric species and eight common corn lepidopteran pests, especially at their larval stage. Furthermore, species-specific primers have confirmed their efficacy by using 69 FAW specimens from Taiwan, Thailand, and the United States, with a 96% success rate, excluding 3 decayed specimens. By using the simple, reliable, and convenient FAW-specific primers, a pest management programme can be developed not only to reduce sequencing costs and experimental time from 2 days to 4 h, but eradicate the FAW as soon as it enters a new area.


Assuntos
Reação em Cadeia da Polimerase Multiplex/métodos , Spodoptera/genética , Agricultura , Animais , Espécies Introduzidas , Larva , Controle de Pragas , Reação em Cadeia da Polimerase/métodos , Especificidade da Espécie , Spodoptera/patogenicidade , Zea mays/parasitologia
15.
J Chem Ecol ; 46(9): 891-905, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32700062

RESUMO

The effect of temperature on insect-plant interactions in the face of changing climate is complex as the plant, its herbivores and their interactions are usually affected differentially leading to an asymmetry in response. Using experimental warming and a combination of biochemical and herbivory bioassays, the effects of elevated temperatures and herbivore damage (Helicoverpa zea) on resistance and tolerance traits of Solanum lycopersicum var. Better boy (tomato), as well as herbivory performance and salivary defense elicitors were examined. Insects and plants were differentially sensitive towards warming within the experimental temperature range. Herbivore growth rate increased with temperature, whereas plants growth as well as the ability to tolerate stress measured by photosynthesis recovery and regrowth ability were compromised at the highest temperature regime. In particular, temperature influenced the caterpillars' capacity to induce plant defenses due to changes in the amount of a salivary defense elicitor, glucose oxidase (GOX). This was further complexed by the temperature effects on plant inducibility, which was significantly enhanced at an above-optimum temperature; this paralleled with an increased plants resistance to herbivory but significantly varied between previously damaged and undamaged leaves. Elevated temperatures produced asymmetry in species' responses and changes in the relationship among species, indicating a more complicated response under a climate change scenario.


Assuntos
Mudança Climática , Glucose Oxidase/metabolismo , Interações Hospedeiro-Parasita , Lepidópteros/fisiologia , Folhas de Planta/parasitologia , Proteínas e Peptídeos Salivares/metabolismo , Solanum lycopersicum/parasitologia , Animais , Comportamento Animal/fisiologia , Comportamento Alimentar/fisiologia , Herbivoria , Temperatura Alta , Larva/enzimologia , Larva/fisiologia , Solanum lycopersicum/metabolismo , Folhas de Planta/metabolismo , Saliva/enzimologia
16.
Planta ; 251(4): 89, 2020 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-32232572

RESUMO

MAIN CONCLUSION: The study challenges the general belief that plants are highly sensitive to oral cues of herbivores and reveals the role of the damage level on the magnitude of defense induction. Many leaf-feeding caterpillars share similar feeding behaviors involving repeated removal of previously wounded leaf tissue (semicircle feeding pattern). We hypothesized that this behavior is a strategy to attenuate plant-induced defenses by removing both the oral cues and tissues that detect it. Using tobacco (Nicotiana tabacum) and the tobacco hornworm (Manduca sexta), we found that tobacco increased defensive responses during herbivory compared to mechanical wounding at moderate damage levels (30%). However, tobacco did not differentiate between mechanical wounding and herbivory when the level of leaf tissue loss was either small (4%) or severe (100%, whole leaf removal). Higher amounts of oral cues did not induce higher defenses when damage was small. Severe damage led to the highest level of systemic defense proteins compared to other levels of leaf tissue loss with or without oral cues. In conclusion, we did not find clear evidence that semicircle feeding behavior compromises plant defense induction. In addition, the level of leaf tissue loss and oral cues interact to determine the level of induced defensive responses in tobacco. Although oral cues play an important role in inducing defensive proteins, the level of induction depends more on the level of leaf tissue loss in tobacco.


Assuntos
Sinais (Psicologia) , Comportamento Alimentar/psicologia , Larva/fisiologia , Manduca/fisiologia , Mariposas/fisiologia , /fisiologia , Animais , Herbivoria , Interações Hospedeiro-Parasita , Folhas de Planta/metabolismo , Proteínas de Plantas/metabolismo , Inibidores de Proteases , Ferimentos e Lesões
17.
Ophthalmic Epidemiol ; 27(5): 390-398, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32326791

RESUMO

PURPOSE: To determine the trends in epidemiological data in patients with neovascular glaucoma (NVG) in Taiwan. METHODS: The data were obtained from the 2016 version of the Longitudinal Health Insurance Database, which contains data on two million randomly sampled patients. Patients with NVG diagnostic codes were enrolled in this study, after which we separated the study population according to different time periods. The demographic data, systemic and ocular comorbidities and treatments that were applied to manage NVG were collected from the database. RESULTS: The overall age-standardized prevalence was 52.48 per 100,000 individuals, and the age-standardized incidence was 4.33 per 100,000 person-years in patients with NVG. In general, men had a higher prevalence and incidence, and the incidence was observed to fluctuate. The patients with the highest educational levels accounted for less than 5% of the NVG patients, and the patients with the highest income levels accounted for less than 15% of the NVG patients. Systemic comorbidities in NVG patients, especially metabolic syndrome, were observed to increase. The percentage of the patients receiving anti-vascular endothelial growth factor treatments increased by more than two-fold after 2008, whereas reductions in trabeculectomy and cyclodestruction procedures were observed. CONCLUSION: The prevalence of NVG was observed to increase in men, and the incidence fluctuated during the study period. Furthermore, the systemic comorbidities, and the use of anti-vascular endothelial growth factor treatment increased; the latter may be associated with a decrease in the use of incisional glaucoma surgery for NVG in recent years.


Assuntos
Glaucoma Neovascular , Trabeculectomia , Idoso de 80 Anos ou mais , Estudos de Coortes , Glaucoma Neovascular/cirurgia , Humanos , Pressão Intraocular , Masculino , Taiwan
18.
J Chem Ecol ; 45(8): 693-707, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31367970

RESUMO

Crop domestication and selective breeding have altered plant defense mechanisms, influencing insect-plant interactions. A reduction in plant resistance/tolerance against herbivory is generally expected in domesticated species, however, limited efforts have been made to compare inducibility of plant defenses between wild and domesticated genotypes. In the present study, the inducibility of several plant defense mechanisms (e.g. defensive chemicals, trichomes, plant volatiles) were investigated, and the performance and preference of the herbivore Helicoverpa zea were measured in three different tomato genotypes; a) wild tomato, Solanum pimpinellifolium L. (accession LA 2093), b) cherry tomato, S. lycopersicum L. var. cerasiforme (accession Matts Wild Cherry), and c) cultivated tomato, S. lycopersicum L. var. Better Boy). Enhanced inducibility of defensive chemicals, trichomes, and plant volatiles in the cultivated tomato, and a higher level of constitutive plant resistance against herbivory in the wild genotype was observed. When comparing the responses of damaged vs. undamaged leaves, the percent reduction in larval growth was higher on damaged leaves from cultivated tomato, suggesting a higher induced resistance compared to other two genotypes. While all tomato genotypes exhibited increased volatile organic compound (VOCs) emissions in response to herbivory, the cultivated variety responded with generally higher levels of VOCs. Differences in VOC patterns may have influenced the ovipositional preferences, as H. zea female moths significantly preferred laying eggs on the cultivated versus the wild tomato genotypes. Selection of traits during domestication and selective breeding could alter allocation of resources, where plants selected for higher yield performance would allocate resources to defense only when attacked.


Assuntos
Mariposas/fisiologia , Solanum lycopersicum/química , Solanum/química , Animais , Comportamento Animal/efeitos dos fármacos , Catecol Oxidase/metabolismo , Feminino , Genótipo , Herbivoria , Larva/fisiologia , Solanum lycopersicum/genética , Solanum lycopersicum/metabolismo , Oviposição/efeitos dos fármacos , Fenóis/análise , Folhas de Planta/química , Folhas de Planta/metabolismo , Folhas de Planta/parasitologia , Proteínas de Plantas/análise , Análise de Componente Principal , Inibidores de Proteases/química , Solanum/genética , Solanum/metabolismo , Compostos Orgânicos Voláteis/química , Compostos Orgânicos Voláteis/metabolismo , Compostos Orgânicos Voláteis/farmacologia
19.
Cornea ; 38(9): 1182-1184, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30950893

RESUMO

PURPOSE: Kabuki syndrome (KS) is a rare congenital disorder characterized by multiple systemic anomalies and unique facial characteristics. Here, we present the first case, to the best of our knowledge, of bilateral congenital corneal opacities as an early-onset ocular manifestation of KS associated with a KMT2D gene mutation. METHODS: The proband is a girl. At birth, bilateral corneal opacities, short fifth fingers, patent ductus arteriosus, absence of the uvula, and an ectopic kidney on the right side were noted. Ophthalmic examinations revealed vascularized, nonhomogeneous opacities in both corneas; to prevent deprivation amblyopia, bilateral corneal transplantations were performed. RESULTS: At 1 year and 10 months of age, she was referred by a general practitioner to our pediatric endocrinologist for failure to thrive. Genetic analysis at that age revealed the presence of a KMT2D gene mutation, and the patient was diagnosed with KS. CONCLUSIONS: The clinical diagnosis of KS is challenging because the most remarkable facial features are not evident until early childhood. In this case, bilateral congenital corneal opacities were identified as an early-onset ocular manifestation of KS. KS should be considered as a differential diagnosis in patients with bilateral congenital corneal opacities.


Assuntos
Anormalidades Múltiplas/patologia , Opacidade da Córnea/patologia , Face/anormalidades , Doenças Hematológicas/patologia , Doenças Vestibulares/patologia , Anormalidades Múltiplas/genética , Proteínas de Ligação a DNA/genética , Face/patologia , Feminino , Doenças Hematológicas/genética , Humanos , Lactente , Mutação , Proteínas de Neoplasias/genética , Doenças Vestibulares/genética
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